├── .gitignore ├── images ├── reports.png └── gaptools_dag.png ├── input_files ├── 1000_Genomes_Study │ ├── 1000_Genomes_SC_DD.xlsx │ ├── 1000_Genomes_FP_Geno.bed │ ├── 1000_Genomes_SSM_DD.xlsx │ ├── sample_attribute_mapping_dd.txt │ ├── subject_phenotype_dd.txt │ ├── metadata.json │ ├── 1000_Genomes_SSM.txt │ └── 1000_Genomes_SC.txt ├── Study_with_errors_in_Genotype_files │ ├── SC_DD.xlsx │ ├── SSM_DD.xlsx │ ├── Incorrect_Geno.bed │ ├── sample_attribute_mapping_dd.txt │ ├── subject_phenotype_dd.txt │ ├── metadata.json │ └── SSM.txt └── Study_with_errors_in_Subject_Sample_Mapping_file │ ├── Geno.bed │ ├── SC_DD.xlsx │ ├── SSM_DD.xlsx │ ├── sample_attribute_mapping_dd.txt │ ├── subject_phenotype_dd.txt │ └── metadata.json ├── airflow-variables.env ├── LICENSE.md ├── docker-compose-CeleryExecutor.yml ├── README.md ├── dbgap-docker.bash └── GaPTools.md /.gitignore: -------------------------------------------------------------------------------- 1 | output_files/ 2 | .env 3 | .idea/ 4 | 5 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/input_files/Study_with_errors_in_Subject_Sample_Mapping_file/SC_DD.xlsx: -------------------------------------------------------------------------------- https://raw.githubusercontent.com/ncbi/gaptools/HEAD/input_files/Study_with_errors_in_Subject_Sample_Mapping_file/SC_DD.xlsx -------------------------------------------------------------------------------- /input_files/Study_with_errors_in_Subject_Sample_Mapping_file/SSM_DD.xlsx: -------------------------------------------------------------------------------- https://raw.githubusercontent.com/ncbi/gaptools/HEAD/input_files/Study_with_errors_in_Subject_Sample_Mapping_file/SSM_DD.xlsx -------------------------------------------------------------------------------- /input_files/1000_Genomes_Study/sample_attribute_mapping_dd.txt: -------------------------------------------------------------------------------- 1 | VARNAME VARDESC TYPE 2 | SAMPLE_ID De-identified Sample ID string 3 | BODY_SITE Body site where sample was collected string 4 | ANALYTE_TYPE Analyte Type string 5 | IS_TUMOR Tumor status encoded values -------------------------------------------------------------------------------- /input_files/Study_with_errors_in_Genotype_files/sample_attribute_mapping_dd.txt: -------------------------------------------------------------------------------- 1 | VARNAME VARDESC TYPE 2 | SAMPLE_ID De-identified Sample ID string 3 | BODY_SITE Body site where sample was collected string 4 | ANALYTE_TYPE Analyte Type string 5 | IS_TUMOR Tumor status encoded values -------------------------------------------------------------------------------- /input_files/Study_with_errors_in_Subject_Sample_Mapping_file/sample_attribute_mapping_dd.txt: -------------------------------------------------------------------------------- 1 | VARNAME VARDESC TYPE 2 | SAMPLE_ID De-identified Sample ID string 3 | BODY_SITE Body site where sample was collected string 4 | ANALYTE_TYPE Analyte Type string 5 | IS_TUMOR Tumor status encoded values -------------------------------------------------------------------------------- /input_files/1000_Genomes_Study/subject_phenotype_dd.txt: -------------------------------------------------------------------------------- 1 | VARNAME VARDESC 2 | SUBJECT_ID De-identified Subject ID 3 | age_onset Disease onset age 4 | sex Gender of participant 5 | race Race of participant 6 | Statin Type of statin 7 | Statin dose Daily statin dose (mg) 8 | Sx post-therapy (mos) Time in months that symptoms continued following cessation of therapy 9 | CK creatine kinase levels 10 | Pain muscle pain 11 | Weakness weakness 12 | -------------------------------------------------------------------------------- /input_files/Study_with_errors_in_Genotype_files/subject_phenotype_dd.txt: -------------------------------------------------------------------------------- 1 | VARNAME VARDESC 2 | SUBJECT_ID De-identified Subject ID 3 | age_onset Disease onset age 4 | sex Gender of participant 5 | race Race of participant 6 | Statin Type of statin 7 | Statin dose Daily statin dose (mg) 8 | Sx post-therapy (mos) Time in months that symptoms continued following cessation of therapy 9 | CK creatine kinase levels 10 | Pain muscle pain 11 | Weakness weakness 12 | -------------------------------------------------------------------------------- /input_files/Study_with_errors_in_Subject_Sample_Mapping_file/subject_phenotype_dd.txt: -------------------------------------------------------------------------------- 1 | VARNAME VARDESC 2 | SUBJECT_ID De-identified Subject ID 3 | age_onset Disease onset age 4 | sex Gender of participant 5 | race Race of participant 6 | Statin Type of statin 7 | Statin dose Daily statin dose (mg) 8 | Sx post-therapy (mos) Time in months that symptoms continued following cessation of therapy 9 | CK creatine kinase levels 10 | Pain muscle pain 11 | Weakness weakness 12 | -------------------------------------------------------------------------------- /airflow-variables.env: -------------------------------------------------------------------------------- 1 | # Postgres configuration 2 | POSTGRES_HOST=postgres 3 | POSTGRES_PORT=5432 4 | POSTGRES_USER=airflow 5 | POSTGRES_PASSWORD=airflow 6 | POSTGRES_DB=airflow 7 | 8 | # Redis configuration 9 | REDIS_HOST=redis 10 | REDIS_PORT=6379 11 | REDIS_PASSWORD= 12 | 13 | # Airflow configuration 14 | AIRFLOW__CORE__EXECUTOR=CeleryExecutor 15 | EXECUTOR=Celery 16 | AIRFLOW__CORE__LOAD_EXAMPLES=False 17 | AIRFLOW__CORE__SQL_ALCHEMY_CONN=postgresql+psycopg2://airflow:airflow@postgres:5432/airflow 18 | AIRFLOW__CELERY__RESULT_BACKEND=db+postgresql://airflow:airflow@postgres:5432/airflow 19 | AIRFLOW__CELERY__BROKER_URL=redis://redis:6379/1 20 | AIRFLOW_FLAVOR=gaptools 21 | VIRTUAL_ENV=.local 22 | 23 | # fernet key: -------------------------------------------------------------------------------- /input_files/Study_with_errors_in_Genotype_files/metadata.json: -------------------------------------------------------------------------------- 1 | { 2 | "NAME": "Study with errors in Genotype files", 3 | "FILES": [ 4 | { 5 | "name": "SC.txt", 6 | "type": "subject_consent_file" 7 | }, 8 | { 9 | "name": "SC_DD.xlsx", 10 | "type": "subject_consent_data_dictionary_file" 11 | }, 12 | { 13 | "name": "SSM.txt", 14 | "type": "subject_sample_mapping_file" 15 | }, 16 | { 17 | "name": "SSM_DD.xlsx", 18 | "type": "subject_sample_mapping_data_dictionary_file" 19 | }, 20 | { 21 | "name": "sample_attribute_mapping.txt", 22 | "type": "sample_attributes" 23 | }, 24 | { 25 | "name": "sample_attribute_mapping_dd.txt", 26 | "type": "sample_attributes_dd" 27 | }, 28 | { 29 | "name": "subject_phenotype.txt", 30 | "type": "phenotype_ds" 31 | }, 32 | { 33 | "name": "subject_phenotype_dd.txt", 34 | "type": "phenotype_dd" 35 | } 36 | ] 37 | } 38 | -------------------------------------------------------------------------------- /input_files/1000_Genomes_Study/metadata.json: -------------------------------------------------------------------------------- 1 | { 2 | "NAME": "1000 Genomes Public Study", 3 | "FILES": [ 4 | { 5 | "name": "1000_Genomes_SC.txt", 6 | "type": "subject_consent_file" 7 | }, 8 | { 9 | "name": "1000_Genomes_SC_DD.xlsx", 10 | "type": "subject_consent_data_dictionary_file" 11 | }, 12 | { 13 | "name": "1000_Genomes_SSM.txt", 14 | "type": "subject_sample_mapping_file" 15 | }, 16 | { 17 | "name": "1000_Genomes_SSM_DD.xlsx", 18 | "type": "subject_sample_mapping_data_dictionary_file" 19 | }, 20 | { 21 | "name": "sample_attribute_mapping.txt", 22 | "type": "sample_attributes" 23 | }, 24 | { 25 | "name": "sample_attribute_mapping_dd.txt", 26 | "type": "sample_attributes_dd" 27 | }, 28 | { 29 | "name": "subject_phenotype.txt", 30 | "type": "phenotype_ds" 31 | }, 32 | { 33 | "name": "subject_phenotype_dd.txt", 34 | "type": "phenotype_dd" 35 | } 36 | ] 37 | } 38 | -------------------------------------------------------------------------------- /input_files/Study_with_errors_in_Subject_Sample_Mapping_file/metadata.json: -------------------------------------------------------------------------------- 1 | { 2 | "NAME": "Study with errors in Subject Sample Mapping file", 3 | "FILES": [ 4 | { 5 | "name": "SC.txt", 6 | "type": "subject_consent_file" 7 | }, 8 | { 9 | "name": "SC_DD.xlsx", 10 | "type": "subject_consent_data_dictionary_file" 11 | }, 12 | { 13 | "name": "Incorrect_SSM.txt", 14 | "type": "subject_sample_mapping_file" 15 | }, 16 | { 17 | "name": "SSM_DD.xlsx", 18 | "type": "subject_sample_mapping_data_dictionary_file" 19 | }, 20 | { 21 | "name": "sample_attribute_mapping.txt", 22 | "type": "sample_attributes" 23 | }, 24 | { 25 | "name": "sample_attribute_mapping_dd.txt", 26 | "type": "sample_attributes_dd" 27 | }, 28 | { 29 | "name": "subject_phenotype.txt", 30 | "type": "phenotype_ds" 31 | }, 32 | { 33 | "name": "subject_phenotype_dd.txt", 34 | "type": "phenotype_dd" 35 | } 36 | ] 37 | } 38 | -------------------------------------------------------------------------------- /LICENSE.md: -------------------------------------------------------------------------------- 1 | # Licensing Notice 2 | 3 | ## National Center for Biotechnology Information 4 | This software is a "United States Government Work" under the 5 | terms of the United States Copyright Act. It was written as part of 6 | the authors' official duties as United States Government employees and 7 | thus cannot be copyrighted. This software is freely available 8 | to the public for use. The National Library of Medicine and the U.S. 9 | Government have not placed any restriction on its use or reproduction. 10 | 11 | Although all reasonable efforts have been taken to ensure the accuracy 12 | and reliability of the software and data, the NLM and the U.S. 13 | Government do not and cannot warrant the performance or results that 14 | may be obtained by using this software or data. The NLM and the U.S. 15 | Government disclaim all warranties, express or implied, including 16 | warranties of performance, merchantability or fitness for any particular 17 | purpose. 18 | 19 | Please cite NCBI in any work or product based on this material. 20 | 21 | ## Third-party tools 22 | This software incorporates third party software, PLINK 1.9, subject to the licensing terms in the URL below. 23 |
24 | PLINK v1.90b6.9 64-bit (4 Mar 2019)               www.cog-genomics.org/plink/1.9/
25 | (C) 2005-2019 Shaun Purcell, Christopher Chang    GNU General Public License v3
26 | 
27 | If you use PLINK 1.9 in any published work, please cite both the software (as an electronic resource/URL): 28 |
29 | Package : PLINK 1.9
30 | Authors : Shaun Purcell, Christopher Chang
31 | URL     : www.cog-genomics.org/plink/1.9/
32 | 
33 | and the manuscript(s) describing the methods you used. Our primary methods paper is: 34 | [Chang CC, Chow CC, Tellier LCAM, Vattikuti S, Purcell SM, Lee JJ (2015) Second-generation PLINK: 35 | rising to the challenge of larger and richer datasets.](https://doi.org/10.1186/s13742-015-0047-8) GigaScience, 4. 36 | 37 | -------------------------------------------------------------------------------- /docker-compose-CeleryExecutor.yml: -------------------------------------------------------------------------------- 1 | version: '3.2' 2 | 3 | services: 4 | redis: 5 | image: 'redis:5.0.5' 6 | 7 | postgres: 8 | image: 'postgres:9.6' 9 | env_file: 10 | - airflow-variables.env 11 | ports: 12 | - "5432" 13 | healthcheck: 14 | test: ["CMD-SHELL", "pg_isready"] 15 | interval: 30s 16 | timeout: 30s 17 | retries: 5 18 | 19 | airflow-web: 20 | image: 'ncbi/gaptools:latest' 21 | restart: always 22 | depends_on: 23 | - postgres 24 | - redis 25 | env_file: 26 | - airflow-variables.env 27 | environment: 28 | - MANIFEST=${MANIFEST} 29 | ports: 30 | - "8080" 31 | command: webserver 32 | volumes: 33 | - type: bind 34 | source: ${INPUT_VOL} 35 | target: /usr/local/airflow/input_files 36 | - type: bind 37 | source: ${OUTPUT_VOL} 38 | target: /usr/local/airflow/output_files 39 | - type: bind 40 | source: ${MANIFEST} 41 | target: /usr/local/airflow/manifest_file 42 | healthcheck: 43 | test: ["CMD-SHELL", "[ -f /usr/local/airflow/airflow-webserver.pid ]"] 44 | interval: 30s 45 | timeout: 30s 46 | retries: 5 47 | 48 | flower: 49 | image: 'ncbi/gaptools:latest' 50 | restart: always 51 | depends_on: 52 | - redis 53 | env_file: 54 | - airflow-variables.env 55 | ports: 56 | - "5555" 57 | command: flower 58 | 59 | scheduler: 60 | image: 'ncbi/gaptools:latest' 61 | restart: always 62 | depends_on: 63 | - airflow-web 64 | env_file: 65 | - airflow-variables.env 66 | command: scheduler 67 | 68 | worker: 69 | image: 'ncbi/gaptools:latest' 70 | restart: always 71 | depends_on: 72 | - scheduler 73 | volumes: 74 | - type: bind 75 | source: ${INPUT_VOL} 76 | target: /usr/local/airflow/input_files 77 | - type: bind 78 | source: ${OUTPUT_VOL} 79 | target: /usr/local/airflow/output_files 80 | - type: bind 81 | source: ${MANIFEST} 82 | target: /usr/local/airflow/manifest_file 83 | env_file: 84 | - airflow-variables.env 85 | command: worker 86 | 87 | gaptools-ui: 88 | image: 'ncbi/gaptools-ui:latest' 89 | restart: always 90 | depends_on: 91 | - airflow-web 92 | volumes: 93 | - type: bind 94 | source: ${OUTPUT_VOL} 95 | target: /code/static/gap/pipeline 96 | ports: 97 | - "8080:8080" 98 | -------------------------------------------------------------------------------- /README.md: -------------------------------------------------------------------------------- 1 | # GaPTools 2 | dbGaP data validation tool. GaPTools is distributed as a docker image on Docker Hub. See [GaPTools.md](GaPTools.md) for more information about the tool. 3 | 4 | ## Pre-requisites: 5 | 6 | ##### Docker Installation: 7 | 8 | You must have Docker installed and working to be able to run GaPTools. Docker is available on many different operating systems, including most modern Linux distributions, like CentOS, Debian, Ubuntu, etc. 9 | Follow the link below for more information about how to install Docker on your particular operating system. 10 | 11 | * [Docker installation guide](https://docs.docker.com/engine/install/#supported-platforms) 12 | 13 | To ensure that you can run GaPTools under your user account, run the below command and check for a response similar to the one below (your version and build numbers might be different than the ones below). 14 | The minimum supported Docker version to run GaPTools is 17.04.0. 15 | 16 | ``` 17 | docker -v 18 | 19 | Docker version 19.03.6, build 369ce74a3c 20 | ``` 21 | ##### Docker Compose Installation: 22 | 23 | GaPTools uses docker-compose to run multiple containers under a single service. Follow the link below for more details on how to install docker-compose. 24 | * [Instructions to install docker-compose](https://docs.docker.com/compose/install/#install-compose) 25 | 26 | ##### Access to data files 27 | 28 | The docker host running GaPTools requires access to the data files that need to be validated. The files can either be on a local file system, a network file share (NFS) or in a storage bucket on the cloud. If the files are on a network file share (NFS) or in a storage bucket on the cloud, they need to be mounted as file system on the docker host. 29 | Below are some tools that are commonly used to mount cloud storage buckets as file systems on linux servers 30 | 31 | 1) [s3-fuse for Amazon Web Services (AWS)](https://github.com/s3fs-fuse/s3fs-fuse) 32 | 1) [gcsfuse for Google Cloud Platform](https://github.com/GoogleCloudPlatform/gcsfuse/) 33 | 34 | 35 | ##### Unused port 8080 on your docker host 36 | 37 | GaPTools requires port 8080 to be available on the host system running docker. Run the below command to check if port 8080 is available on the docker host. 38 | If the below command does not produce any output, then port 8080 is available on the docker host. 39 | ``` 40 | netstat -an | grep "8080" 41 | ``` 42 | 43 | ## Setup 44 | 45 | Once all pre-requisites are met, follow the instructions below to setup GaPTools. The setup can be validated using a sample study that is included as part of GaPTools installation. 46 | The input files for the sample study are inside the __input_files/1000_Genomes_Study/__ directory of the cloned GaPTools GitHub repository. 47 | 48 | For the sample study, we will have GaPTools generate all output files inside the __output_files/1000_Genomes_Study/__ directory. 49 | ``` 50 | git clone https://github.com/ncbi/gaptools 51 | 52 | cd gaptools 53 | mkdir -p output_files/1000_Genomes_Study 54 | 55 | # Change file permissions to allow GaPTools to write output files on docker host 56 | chmod -R o+w output_files 57 | ``` 58 | 59 | ## Execution 60 | 61 | Once GaPTools is setup, to execute it on the included sample study, run the below script from inside the same directory where the GaPTools GitHub repository is cloned. 62 | ``` 63 | ./dbgap-docker.bash -i ./input_files/1000_Genomes_Study/ -o ./output_files/1000_Genomes_Study -m ./input_files/1000_Genomes_Study/metadata.json up 64 | ``` 65 | 66 | GaPTools uses Apache Airflow behind the scenes as the workflow orchestrator to perform all the validation tasks. To view the validation results of the dbGaP validation tool, browse to the following URL: 67 | 68 | ``` 69 | http://:8080 70 | ``` 71 | 72 | At the end of the workflow, the output files will be created under the specified output directory. 73 | ## Usage 74 | 75 | To use GaPTools for your study, modify the above command and pass as input parameters: 76 | 77 | __-i__ -- path to the input files for your study 78 | 79 | __-o__ -- path where output files should be generated 80 | 81 | __-m__ -- path to the manifest file for your study 82 | 83 | ## Stop Docker Containers 84 | 85 | Once your study is processed, run the below command to stop the GaPTools service. 86 | ``` 87 | ./dbgap-docker.bash down 88 | ``` 89 | 90 | ## Contact 91 | If you have any questions or to report any issues, please contact us at: [dbgap-help@ncbi.nlm.nih.gov](dbgap-help@ncbi.nlm.nih.gov) 92 | -------------------------------------------------------------------------------- /dbgap-docker.bash: -------------------------------------------------------------------------------- 1 | #!/bin/bash 2 | 3 | #================================================================ 4 | # HEADER 5 | #================================================================ 6 | #% SYNOPSIS 7 | #+ ${SCRIPT_NAME} [-h] [-i, --input [input directory]] 8 | #+ [-o, --output [output directory]] 9 | #+ [-m, --manifest [manifest file]] 10 | #+ [up|down] 11 | #+ 12 | #% DESCRIPTION 13 | #% This script runs GaPTools to validate data files 14 | #% to be submitted to dbGaP. It loads a docker-compose 15 | #% file and runs required docker containers. 16 | #% 17 | #% 18 | #% OPTIONS 19 | #% -i, --input Input directory containing the 20 | #% data files to be validated. 21 | #% -o, --output Output directory 22 | #% -m, --manifest Manifest file with metadata 23 | #% -h, --help Print this help 24 | #% 25 | #% EXAMPLES 26 | #% ${SCRIPT_NAME} -i ./input_files/1000_Genomes_Study/ -o ./output_files/1000_Genomes_Study/ -m ./input_files/1000_Genomes_Study/metadata.json up 27 | #% ${SCRIPT_NAME} down 28 | #% 29 | #% 30 | #% REQUIREMENTS 31 | #% docker 32 | #% docker-compose 33 | #% 34 | #% 35 | #================================================================ 36 | # END_OF_HEADER 37 | #================================================================ 38 | 39 | 40 | 41 | #== needed variables ==# 42 | SCRIPT_HEADSIZE=$(head -200 ${0} |grep -n "^# END_OF_HEADER" | cut -f1 -d:) 43 | SCRIPT_NAME="$(basename ${0})" 44 | 45 | #== usage functions ==# 46 | usage() { printf "Usage: "; head -${SCRIPT_HEADSIZE:-99} ${0} | grep -e "^#+" | sed -e "s/^#+[ ]*//g" -e "s/\${SCRIPT_NAME}/${SCRIPT_NAME}/g" ; } 47 | usagefull() { head -${SCRIPT_HEADSIZE:-99} ${0} | grep -e "^#[%+-]" | sed -e "s/^#[%+-]//g" -e "s/\${SCRIPT_NAME}/${SCRIPT_NAME}/g" ; } 48 | 49 | ################## 50 | # Parse and verify command line options 51 | ################## 52 | OPTIONS=ht:i:o:m: 53 | LONGOPTS=help,input:,output:,manifest: 54 | 55 | # pass arguments only via -- "$@" to separate them correctly 56 | ! PARSED=$(getopt --options=$OPTIONS --longoptions=$LONGOPTS --name "$0" -- "$@") 57 | if [[ ${PIPESTATUS[0]} -ne 0 ]]; then 58 | # e.g. return value is 1 59 | # then getopt has complained about wrong arguments to stdout 60 | echo "Wrong number/type of arguments" 61 | usage 62 | exit 2 63 | fi 64 | # read getopt output to handle the quoting: 65 | eval set -- "$PARSED" 66 | 67 | # interate through to set values for the script 68 | while true; do 69 | case "$1" in 70 | -h|--help) 71 | usagefull 72 | exit 73 | ;; 74 | -i|--input) 75 | INPUT_DIR="$2" 76 | INPUT_DIR="$(echo -e "${INPUT_DIR}" | tr -d '[[:space:]]')" 77 | if [ -z "$INPUT_DIR" ]; then 78 | echo $INPUT_DIR "Please provide the input directory" 79 | usage 80 | exit 2 81 | fi 82 | if [ z"${INPUT_DIR:0:1}" == "z-" ]; then 83 | echo $INPUT_DIR "Please provide the input directory" 84 | usage 85 | exit 2 86 | fi 87 | shift 2 88 | ;; 89 | -o|--output) 90 | OUTPUT_DIR="$2" 91 | OUTPUT_DIR="$(echo -e "${OUTPUT_DIR}" | tr -d '[[:space:]]')" 92 | if [ -z "$OUTPUT_DIR" ]; then 93 | echo $OUTPUT_DIR "Please provide the output directory" 94 | usage 95 | exit 2 96 | fi 97 | if [ z"${OUTPUT_DIR:0:1}" == "z-" ]; then 98 | echo $OUTPUT_DIR "Please provide the output directory" 99 | usage 100 | exit 2 101 | fi 102 | shift 2 103 | ;; 104 | -m| --manifest) 105 | MANIFEST="$2" 106 | MANIFEST="$(echo -e "${MANIFEST}" | tr -d '[[:space:]]')" 107 | if [ -z "$MANIFEST" ]; then 108 | echo $MANIFEST "Please provide full path to the manifest file" 109 | usage 110 | exit 2 111 | fi 112 | if [ z"${MANIFEST:0:1}" == "z-" ]; then 113 | echo $MANIFEST "Please provide full path to the manifest file" 114 | usage 115 | exit 2 116 | fi 117 | shift 2 118 | ;; 119 | --) 120 | shift 121 | break 122 | ;; 123 | *) 124 | echo "An incorrect option has been supplied" 125 | usage 126 | exit 3 127 | ;; 128 | esac 129 | done 130 | 131 | ################## 132 | # Verify up/down arguments were supplied properly 133 | ################## 134 | if [[ $# -ne 1 ]]; then 135 | echo $'\n'"$0: Incorrect options supplied"$'\n' 136 | usage 137 | exit 4 138 | fi 139 | DSTATE=$1 140 | if ! [[ "${DSTATE}" =~ ^(up|down)$ ]]; then 141 | echo $'\n'"$0: The allowed options are up or down"$'\n' 142 | usage 143 | exit 4 144 | fi 145 | 146 | ######################### 147 | # Run the docker-compose commands to bring the environment down 148 | # Skips the rest of the validation and exit the script 149 | ######################### 150 | if [ $DSTATE == "down" ]; then 151 | docker-compose -f docker-compose-CeleryExecutor.yml down 152 | exit 153 | fi 154 | 155 | ######################## 156 | # Normalize paths 157 | ######################## 158 | 159 | function normalize_path() { 160 | path1="$1" 161 | if [ "${path1:0:1}" != '/' -a "${path1:0:2}" != './' ] ; then 162 | path1="./$path1" 163 | fi 164 | printf '%s' "$path1" 165 | } 166 | 167 | INPUT_DIR=$(normalize_path "$INPUT_DIR") 168 | OUTPUT_DIR=$(normalize_path "$OUTPUT_DIR") 169 | MANIFEST=$(normalize_path "$MANIFEST") 170 | 171 | ######################## 172 | # Validate that all options have been set 173 | ######################## 174 | ERROR_TEXT="" 175 | if [ -z ${INPUT_DIR} ]; then 176 | ERROR_TEXT=$ERROR_TEXT$'Input directory has not been set.\n' 177 | fi 178 | if [ -z ${OUTPUT_DIR} ]; then 179 | ERROR_TEXT=$ERROR_TEXT$'Output directory has not been set.\n' 180 | fi 181 | # if [ -z ${FS_TYPE} ]; then 182 | # ERROR_TEXT=$ERROR_TEXT$'Filesystem type has not been set. Valid options are local or nfs.\n' 183 | # fi 184 | if [ ! -z "${ERROR_TEXT}" ]; then 185 | echo "$ERROR_TEXT" 186 | usage 187 | exit 2 188 | fi 189 | 190 | ######################## 191 | # Validate that the input and output directories exist 192 | ######################## 193 | if [ ! -d "$INPUT_DIR" ]; then 194 | echo "Input directory does not exist" 195 | exit 2 196 | fi 197 | if [ ! -d "$OUTPUT_DIR" ]; then 198 | echo "Output directory does not exist" 199 | exit 2 200 | fi 201 | if [ ! -f "$MANIFEST" ]; then 202 | echo "Manifest file does not exist" 203 | exit 2 204 | fi 205 | 206 | ######################## 207 | # Create a .env file to be used by docker-compose 208 | ######################## 209 | echo "OUTPUT_VOL=${OUTPUT_DIR}" > .env 210 | echo "INPUT_VOL=${INPUT_DIR}" >> .env 211 | echo "MANIFEST=${MANIFEST}" >> .env 212 | 213 | ######################## 214 | # fill fernet key 215 | ######################## 216 | env_file=airflow-variables.env 217 | # if not exists, then add 218 | grep '^FERNET_KEY=' "$env_file" > /dev/null 219 | if [ $? -ne 0 ]; then 220 | 221 | python_code="from cryptography.fernet import Fernet; FERNET_KEY = Fernet.generate_key().decode(); print(FERNET_KEY); " 222 | fernet_key=$(docker run -it --rm 'ncbi/gaptools:latest' /usr/bin/python3 -c "$python_code" ) 223 | if [ $? -ne 0 ]; then 224 | echo "Cannot generate fernet key" 225 | exit 2 226 | fi 227 | 228 | printf "\nFERNET_KEY=%s\n\n" "$fernet_key" >> "$env_file" 229 | 230 | fi 231 | 232 | ######################### 233 | # check if fernet key is properly set 234 | ######################### 235 | 236 | docker run -it --rm --env-file "$env_file" 'ncbi/gaptools:latest' /bin/bash -c "printenv | grep '^FERNET_KEY=' > /dev/null" 237 | if [ $? -ne 0 ]; then 238 | echo "Cannot fill fernet key properly" 239 | exit 2 240 | fi 241 | 242 | ######################### 243 | # Check to see if webserver container is up 244 | ######################### 245 | docker_check() { 246 | while IFS= read -r docker_line 247 | do 248 | ## look for Up on the gaptools worker container 249 | if [[ ($docker_line =~ .*\/entrypoint\.sh\ we.*) && ($docker_line =~ .*\(healthy\).*) ]]; then 250 | return 0 251 | fi 252 | done < <(docker ps) 253 | return 1 254 | } 255 | 256 | ######################### 257 | # Run the docker-compose commands to bring the environment up 258 | ######################### 259 | if [ $DSTATE == "up" ]; then 260 | docker pull ncbi/gaptools:latest 261 | docker-compose -f docker-compose-CeleryExecutor.yml up -d 262 | i=0 263 | while ! docker_check 264 | do 265 | i=$((i+1)) 266 | echo "Waiting for webserver to start... ${i} of 20" 267 | if [[ $i == 20 ]]; then 268 | echo "Timed out waiting for webserver to start" 269 | echo "Check the docker container logs by executing the command \"docker logs [container_name]\"" 270 | echo "E.g. \"docker logs gaptools_webserver_1\"" 271 | echo 272 | exit 2 273 | fi 274 | sleep 10 275 | done 276 | 277 | echo "" 278 | echo "The airflow server has started on port 8080. Visit " 279 | echo "http://:8080" 280 | echo "in your web browser to view the status." 281 | echo "" 282 | echo "" 283 | echo "When the airflow process is complete run:" 284 | echo "./dbgap-docker.bash down" 285 | echo "to stop and delete the docker containers." 286 | echo "" 287 | echo "" 288 | echo "At the end of the workflow, the output files will be created under ${OUTPUT_DIR}." 289 | echo "" 290 | fi 291 | -------------------------------------------------------------------------------- /GaPTools.md: -------------------------------------------------------------------------------- 1 | # GaPTools 2 | The National Center for Biotechnology Information's [dbGaP archive](https://www.ncbi.nlm.nih.gov/gap/) has processed, archived and distributed genome scale datasets 3 | from over 1500 different studies comprised from data collected on over 2.5 million study participants (subjects) since 2007. 4 | In support of National Institutes of Health [Genomic Data Sharing policy](https://osp.od.nih.gov/scientific-sharing/genomic-data-sharing/) and the emerging NIH data sharing ecosystem 5 | the NCBI has developed a QA/QC software tool named GaPTools to evaluate consistency of genome scale datasets. This tool is used to evaluate datasets 6 | prior to submission to public archives, such as dbGaP. This software package uses the same code and therefore is consistent with the code for the internal dbGaP automated processing pipeline. 7 | The tool is intended to identify common inconsistencies that can delay processing/sharing of the data. The use of this tool and correcting any errors prior to submission will substantially 8 | reduce the time needed for dbGaP staff to process and release data. This tool is not designed for genomic analysis. GaPTools is distributed as a docker image on Dockerhub. 9 | 10 | ## Updated in version V1.5 11 | * Basic format checks 12 | * Input file concordance check with datasets and data dictionary files 13 | * QC Checks 14 | * Determines if Subject Consent Data Dictionary and Dataset are provided 15 | * Determines if Genotype files are provided 16 | * Phenotype and Sample Attribute Checks 17 | * Input Files 18 | * Dataset and Data Dictionary files are supported in text (.txt) and Excel (.xlsx) formats. 19 | * Subject Consent Data Dictionary 20 | * Subject Consent Dataset 21 | * Subject Sample Mapping Data Dictionary 22 | * Phenotype Dataset 23 | * Phenotype Data Dictionary 24 | * Sample Attribute Dataset 25 | * Sample Attribute Data Dictionary 26 | 27 | #### Why Docker? 28 | GaPTools uses Apache Airflow behind the scenes as the workflow orchestrator to perform all the validation tasks. Apache Airflow is a platform to programmatically author, schedule and monitor workflows. 29 | Workflows are authored as directed acyclic graphs (DAGs) of tasks. The airflow scheduler executes tasks on an array of workers while following the specified dependencies. 30 | 31 | There are four main components of Apache Airflow: 32 | * A metadata database for tasks 33 | * UI web client for monitoring task execution 34 | * A scheduler that triggers tasks 35 | * An executor (worker) that gets the tasks done 36 | 37 | Though all the above components can be setup independently, we use Docker to reduce the overhead of setup and configuration of the individual components. 38 | All these components are defined and configured in a single docker-compose file, which is used to bring up all the components with a single command. 39 | 40 | #### Current QC Checks 41 | The initial release of GaPTools includes the functions to check the issues that most commonly cause delays in processing and prevent data archiving and sharing via dbGaP, including: 42 | * Basic format checks 43 | * File Formats are consistent with dbGaP submission guide with regard to 44 | * Required columns 45 | * Illegal characters 46 | * Input file concordance check with datasets and data dictionary files 47 | * Column headers in dataset are listed in data dictionary 48 | * Data dictionary files have descriptions of all variables 49 | * Subject and Sample ID checks 50 | * Subject IDs from SSM are present in SC file. 51 | * Pedigree file IDs (Subject Mother and Father columns) are present in SC file. 52 | * Sample IDs listed in genotype files (PLINK or .VCF) are present in in SSM file. 53 | * Phenotype and Sample Attribute Checks 54 | * Subject IDs in Phenotype datasets are a subset of the Subject IDs in Subject Consent file 55 | * Sample IDs in Sample Attribute datasets are a subset of the Sample IDs in Subject Sample Mapping file 56 | * Pedigree file 57 | * Subjects listed as Twins have same Mother and Father. 58 | * Mother IDs are female and Father IDss are male in pedigree file. 59 | * Subject Sex in pedigree file is consistent with Sex in SC file. 60 | * Genotype Checks 61 | * Computed Sex values determined using GRAF software (based on the heterozygosity of non-pseudo-autosomal X chromosome markers) are consistent with the reported Sex values in SC and Pedigree files. 62 | * Detection of Cryptic Duplicate Samples. Samples that belong to different Subjects (and are not twins) but have the same genetic profile as determined by GRAF. 63 | * Detection of Sample IDs that belong to the same subject but have different genetic profiles as determined by GRAF. 64 | * Detection of Parent offspring pairs as determined using GRAF software that are not specified in Pedigree file. 65 | * Reports 66 | * Report with all reported and computed Sex values produced by GRAF. 67 | * Report of computed relationships produced by GRAF. 68 | 69 | The full list of errors detected by the system can be found here:[Validation Error Codes](https://www.ncbi.nlm.nih.gov/gap/public_utils/messages/) 70 | 71 | #### Input Files 72 | GaPTools is designed to check core phenotype data files and genomic datasets in both PLINK and VCF format. 73 | Datasets and Data Dictionary files are supported in text (.txt) and Excel (.xlsx) formats. Current software is limited to phenotype datasets that have a simple primary key of either Subject_id or Sample_id. Phenotype datasets with complex keys are not supported in this version. To review the 74 | required files and their format for individual level data submission please see the [dbGaP submission guide](https://www.ncbi.nlm.nih.gov/gap/docs/submissionguide/). 75 | 76 | * Subject Consent Dataset 77 | * Subject Consent Data Dictionary 78 | * Subject Sample Mapping Dataset 79 | * Subject Sample Mapping Data Dictionary 80 | * Genotype Files ([PLINK](https://www.cog-genomics.org/plink/1.9/formats) and [VCF](https://en.wikipedia.org/wiki/Variant_Call_Format)) 81 | * Phenotype Dataset 82 | * Phenotype Data Dictionary 83 | * Sample Attribute Dataset 84 | * Sample Attribute Data Dictionary 85 | 86 | In the current version only Subject Consent Dataset and Data Dictionary are required. Input files are configured with metadata file described below. 87 | 88 | 89 | ##### Metadata file 90 | This tool also requires as an input parameter, a json file with the metadata information about the files to be processed. The file has to be named `metadata.json`. 91 | 92 | Here is a sample `metadata.json` file: 93 | ``` 94 | { 95 | "NAME": "1000 Genomes Public Study", 96 | "FILES": [ 97 | { 98 | "name": "1000_Genomes_SC.txt", 99 | "type": "subject_consent_file" 100 | }, 101 | { 102 | "name": "1000_Genomes_SC_DD.xlsx", 103 | "type": "subject_consent_data_dictionary_file" 104 | }, 105 | { 106 | "name": "1000_Genomes_SSM.txt", 107 | "type": "subject_sample_mapping_file" 108 | }, 109 | { 110 | "name": "1000_Genomes_SSM_DD.xlsx", 111 | "type": "subject_sample_mapping_data_dictionary_file" 112 | }, 113 | { 114 | "name": "sample_attribute_mapping.txt", 115 | "type": "sample_attributes" 116 | }, 117 | { 118 | "name": "sample_attribute_mapping_dd.txt", 119 | "type": "sample_attributes_dd" 120 | }, 121 | { 122 | "name": "subject_phenotype.txt", 123 | "type": "phenotype_ds" 124 | }, 125 | { 126 | "name": "subject_phenotype_dd.txt", 127 | "type": "phenotype_dd" 128 | } 129 | ] 130 | } 131 | ``` 132 | 133 | The metadata file, at the very minimum, requires the following attributes: 134 | * A `NAME` attribute that describes the study being processed 135 | * A `FILES` attribute that contains information about the 2 required files: 136 | * `subject_consent_file` 137 | * `subject_sample_mapping_file` 138 | 139 | An optional file of type `pedigree_file` can also be added to the `FILES` list in the metadata file. 140 | 141 | #### Usage 142 | Please refer to the [README](README.md) file for instructions to setup and execute GaPTools. 143 | 144 | #### Check Processing Status 145 | Once GaPTools is triggered to process the files, the status of the workflow execution can be checked by browsing to the URL below: 146 | ``` 147 | http://:8080/admin/airflow/graph?dag_id=gaptools 148 | ``` 149 | The URL opens the embedded Airflow UI web console that displays the status of the DAG execution. Here is an example of a DAG that has successfully finished processing: 150 | 151 | ![](images/gaptools_dag.png) 152 | 153 | * `CHECK_METADATA_FILES` - Validates the structure of the metadata.json file. It also checks the metadata file has all the required attributes. 154 | * `IS_SC_DS_AND_DD_SUBMITTED` - Determines if Subject Consent Dataset and Data Dictionary are provided. 155 | * `CREATE_GENO_TELEMETRY` - Creates a telemetry file for subsequent tasks to refer to. 156 | * `IS_PEDIGREE_DS_AND_DD_SUBMITTED` - Determines if Pedigree Dataset and Data Dictionary are provided. 157 | * `VALIDATE_PEDIGREE_DS` - Validates Pedigree Dataset provided. 158 | * `VALIDATE_PEDIGREE_DD` - Validates provided Pedigree Dataset file. 159 | * `VALIDATE_PEDIGREE_DS_VS_DD` - Validates Pedigree Dataset against Pedigree Data Dictionary provided. 160 | * `IS_SSM_DS_AND_DD_SUBMITTED` - Determines if Subject Sample Mapping Dataset and Data Dictionary are provided. 161 | * `ARE_GENO_FILES_SUBMITTED` - Determines if Genotype files are provided. 162 | * `VALIDATE_SSM_DS` - Validates Subject Sample Mapping Dataset provided. 163 | * `VALIDATE_SSM_DD` - Validates Subject Sample Mapping Data Dictionary provided. 164 | * `VALIDATE_SSM_DS_VS_DD` - Validates Subject Sample Mapping Dataset against Subject Sample Mapping Data Dictionary provided. 165 | * `VALIDATE_SC_DS` - Validates Subject Consent Dataset provided. 166 | * `VALIDATE_SC_DD` - Validates Subject Consent Data Dictionary provided. 167 | * `VALIDATE_SC_DS_VS_DD` - Validates Subject Sample Consent Dataset against Subject Consent Data Dictionary provided. 168 | * `VALIDATE_SSM_DS_VS_SC_DS` - Validates Subject Sample Mapping Dataset against Subject Consent Dataset provided. 169 | * `VALIDATE_SSM_DS_VS_GENO` - Validates Subject Sample Mapping Dataset against Geno Telemetry files provided. 170 | * `VALIDATE_PEDIGREE_DS_VS_SC_DS` - Validates Pedigree Dataset against Subject Consent Dataset provided. 171 | * `VALIDATE_SUBJECT_PHENOTYPE_DS` - Validates Subject Phenontype Dataset provided. 172 | * `VALIDATE_SUBJECT_PHENOTYPE_DD` - Validates Subject Phenontype Data Dictionary provided. 173 | * `VALIDATE_SUBJECT_PHENOTYPE_DS_VS_DD` - Validates Subject Phenotype Dataset against Subject Phenotype Data Dictionary provided. 174 | * `VALIDATE_SAMPLE_ATTRIBUTE_DS` - Validates Sample Attribute Dataset provided. 175 | * `VALIDATE_SAMPLE_ATTRIBUTE_DD` - Validates Sample Attribute Data Dictionary provided. 176 | * `VALIDATE_SAMPLE_ATTRIBUTE_DS_VS_DD` - Validates Sample Attribute Dataset against Subject Attribute Data Dictionary provided. 177 | * `VALIDATE_SC_DS_VS_SUBJECT_PHENOTYPE_DS` - Validates Subject Consent Dataset against Subject Phenotype Dataset provided. 178 | * `VALIDATE_SSM_DS_VS_SAMPLE_ATTRIBUTE_DS` - Validates Subject Sample Mapping against Sample Attribute Dataset provided. 179 | * `IS_ID_ERROR_DETECTED` - Checks if any ID errors are detected from the above validation tasks. 180 | * `PROCESS_GENO_FILES` - Executed when no ID errors are detected. 181 | * `EXTRACT_VCF_FILES` - Extract VCF files to a location in the output directory. 182 | * `EXTRACT_PLINK_FILES` - Extract PLINK files to a location in the output directory. 183 | * `MERGE_GENO_MATRIX_FRAGMENTS` - Consolidate VCF and PLINK files whenever it is possible. 184 | * `UPDATE_FAM_FILES` - Update PLINK FAM files with sex information from the Subject Consent file. 185 | * `RUN_GRAF_SEX` - Execute GRAF command to produce sex report. 186 | * `RUN_GRAF_RELATIONSHIP` - Execute GRAF command to produce relationship report. 187 | * `END_OF_VALIDATIONS` - Marks the end of the validations. 188 | * `REPORT_VALIDATION_RESULTS` - Generates a consolidated report of the processing of Geno files. 189 | 190 | 191 | #### Output Files 192 | At the end of all the validation tasks, GaPTools generates reports in the specified output directory. It produces consolidated reports written to a file in an email format under the `/client_emails/studies/` directory. 193 | 194 | The web interface has a link to the final report generated for execution of the data validation tool. The most recent report is at the top and they are organized by date. 195 | ![](images/reports.png) 196 | 197 | GaPTools also generates individual reports in JSON format for every task in the Airflow DAG. These individual reports are created under the `/client_messages/` directory. 198 | 199 | #### Included Sample Studies 200 | GaPTools includes three sample studies to demonstrate the functionality of the tool. 201 | The supplied examples have data from the [1000 Genomes Project](https://www.internationalgenome.org/), 202 | as well as two artificially created studies with intentional errors to illustrate error reporting. 203 | These samples located under `input_files/` directory in separate folders. 204 | 205 | #### References 206 | [NCBI's Database of Genotypes and Phenotypes: dbGaP.](https://pubmed.ncbi.nlm.nih.gov/24297256/) 207 | Tryka KA, Hao L, Sturcke A, Jin Y, Wang ZY, Ziyabari L, Lee M, Popova N, Sharopova N, Kimura M, Feolo M. 208 | Nucleic Acids Res. 2014 Jan;42(Database issue):D975-9. doi: 10.1093/nar/gkt1211. Epub 2013 Dec 1. 209 | PMID: 24297256 210 | 211 | [Quickly identifying identical and closely related subjects in large databases using genotype data.](https://pubmed.ncbi.nlm.nih.gov/28609482/) 212 | Jin Y, Schäffer AA, Sherry ST, Feolo M. 213 | PLoS One. 2017 Jun 13;12(6):e0179106. doi: 10.1371/journal.pone.0179106. eCollection 2017. 214 | PMID: 28609482 215 | 216 | [Second-generation PLINK: rising to the challenge of larger and richer datasets.](https://pubmed.ncbi.nlm.nih.gov/25722852/) 217 | Chang CC, Chow CC, Tellier LC, Vattikuti S, Purcell SM, Lee JJ. 218 | Gigascience. 2015 Feb 25;4:7. doi: 10.1186/s13742-015-0047-8. eCollection 2015. 219 | PMID: 25722852 220 | -------------------------------------------------------------------------------- /input_files/1000_Genomes_Study/1000_Genomes_SSM.txt: -------------------------------------------------------------------------------- 1 | Subject Sample 2 | HG00310 HG00310 3 | NA18557 NA18557 4 | HG00189 HG00189 5 | NA20278 NA20278 6 | HG03074 HG03074 7 | HG01515 HG01515 8 | NA18966 NA18966 9 | HG01395 HG01395 10 | HG01522 HG01522 11 | HG01384 HG01384 12 | NA18537 NA18537 13 | HG03259 HG03259 14 | HG02860 HG02860 15 | NA19197 NA19197 16 | HG01985 HG01985 17 | HG03238 HG03238 18 | NA19452 NA19452 19 | HG02012 HG02012 20 | HG00127 HG00127 21 | HG01092 HG01092 22 | NA19004 NA19004 23 | NA18566 NA18566 24 | HG00174 HG00174 25 | HG00343 HG00343 26 | NA20809 NA20809 27 | HG00263 HG00263 28 | HG01075 HG01075 29 | HG00864 HG00864 30 | HG02165 HG02165 31 | HG02389 HG02389 32 | HG01489 HG01489 33 | NA12156 NA12156 34 | NA19248 NA19248 35 | HG03499 HG03499 36 | NA18574 NA18574 37 | HG03063 HG03063 38 | HG03294 HG03294 39 | HG02186 HG02186 40 | HG00690 HG00690 41 | HG03139 HG03139 42 | NA20342 NA20342 43 | NA20298 NA20298 44 | NA19707 NA19707 45 | HG02970 HG02970 46 | NA19062 NA19062 47 | HG03118 HG03118 48 | HG00258 HG00258 49 | NA19257 NA19257 50 | HG02759 HG02759 51 | NA07347 NA07347 52 | NA19355 NA19355 53 | HG01462 HG01462 54 | NA19401 NA19401 55 | HG01670 HG01670 56 | HG00105 HG00105 57 | NA20769 NA20769 58 | NA19129 NA19129 59 | HG01912 HG01912 60 | NA18499 NA18499 61 | NA19098 NA19098 62 | HG01177 HG01177 63 | HG02449 HG02449 64 | NA18871 NA18871 65 | HG00379 HG00379 66 | NA18757 NA18757 67 | HG00596 HG00596 68 | HG03057 HG03057 69 | HG00178 HG00178 70 | NA18510 NA18510 71 | NA11992 NA11992 72 | NA20818 NA20818 73 | HG03304 HG03304 74 | HG01357 HG01357 75 | HG01509 HG01509 76 | HG03558 HG03558 77 | HG00139 HG00139 78 | HG02804 HG02804 79 | HG01620 HG01620 80 | HG00109 HG00109 81 | NA19474 NA19474 82 | HG01676 HG01676 83 | HG01816 HG01816 84 | NA20760 NA20760 85 | HG00096 HG00096 86 | HG01506 HG01506 87 | HG00324 HG00324 88 | HG00280 HG00280 89 | HG03109 HG03109 90 | NA19439 NA19439 91 | HG01863 HG01863 92 | NA18969 NA18969 93 | HG01694 HG01694 94 | HG00766 HG00766 95 | HG01885 HG01885 96 | NA19011 NA19011 97 | NA19009 NA19009 98 | NA19038 NA19038 99 | HG02401 HG02401 100 | HG00736 HG00736 101 | NA20509 NA20509 102 | HG00155 HG00155 103 | NA18489 NA18489 104 | NA18593 NA18593 105 | HG01378 HG01378 106 | HG01852 HG01852 107 | HG02667 HG02667 108 | NA20828 NA20828 109 | NA19922 NA19922 110 | NA19099 NA19099 111 | NA19092 NA19092 112 | HG02113 HG02113 113 | NA20759 NA20759 114 | HG01121 HG01121 115 | HG02230 HG02230 116 | HG00653 HG00653 117 | NA20753 NA20753 118 | HG02073 HG02073 119 | NA19334 NA19334 120 | HG00117 HG00117 121 | NA20798 NA20798 122 | HG02322 HG02322 123 | NA19026 NA19026 124 | HG02621 HG02621 125 | NA12889 NA12889 126 | HG03045 HG03045 127 | HG01405 HG01405 128 | NA19312 NA19312 129 | HG02643 HG02643 130 | NA18961 NA18961 131 | HG00236 HG00236 132 | HG02574 HG02574 133 | HG01259 HG01259 134 | HG00708 HG00708 135 | NA20524 NA20524 136 | HG02053 HG02053 137 | HG01089 HG01089 138 | NA12815 NA12815 139 | NA19210 NA19210 140 | NA19024 NA19024 141 | NA19235 NA19235 142 | HG01775 HG01775 143 | HG00325 HG00325 144 | NA18632 NA18632 145 | HG01868 HG01868 146 | HG01326 HG01326 147 | HG02772 HG02772 148 | NA20515 NA20515 149 | HG02734 HG02734 150 | NA18526 NA18526 151 | NA19457 NA19457 152 | NA20862 NA20862 153 | NA20772 NA20772 154 | HG01048 HG01048 155 | HG02256 HG02256 156 | NA19435 NA19435 157 | NA18611 NA18611 158 | NA07048 NA07048 159 | HG00275 HG00275 160 | HG01602 HG01602 161 | HG00410 HG00410 162 | HG00404 HG00404 163 | HG01705 HG01705 164 | NA11930 NA11930 165 | HG02035 HG02035 166 | NA20535 NA20535 167 | HG03382 HG03382 168 | HG00629 HG00629 169 | NA18978 NA18978 170 | HG00475 HG00475 171 | HG03539 HG03539 172 | NA20805 NA20805 173 | HG01598 HG01598 174 | HG03457 HG03457 175 | HG02493 HG02493 176 | NA19319 NA19319 177 | NA07000 NA07000 178 | NA21108 NA21108 179 | HG01678 HG01678 180 | HG00366 HG00366 181 | NA18953 NA18953 182 | HG01862 HG01862 183 | HG00123 HG00123 184 | NA19372 NA19372 185 | HG02545 HG02545 186 | NA19908 NA19908 187 | HG01632 HG01632 188 | HG01550 HG01550 189 | NA18916 NA18916 190 | HG01107 HG01107 191 | HG03193 HG03193 192 | NA20506 NA20506 193 | HG00271 HG00271 194 | HG01771 HG01771 195 | HG02597 HG02597 196 | HG00557 HG00557 197 | HG01440 HG01440 198 | HG03563 HG03563 199 | HG03081 HG03081 200 | HG00537 HG00537 201 | HG01060 HG01060 202 | HG00330 HG00330 203 | HG00458 HG00458 204 | HG00150 HG00150 205 | NA18634 NA18634 206 | HG01108 HG01108 207 | NA20530 NA20530 208 | NA19035 NA19035 209 | HG02057 HG02057 210 | HG01365 HG01365 211 | HG01861 HG01861 212 | HG02979 HG02979 213 | HG01097 HG01097 214 | HG01137 HG01137 215 | HG02561 HG02561 216 | HG03024 HG03024 217 | HG00311 HG00311 218 | HG01498 HG01498 219 | HG03473 HG03473 220 | HG00671 HG00671 221 | HG01474 HG01474 222 | NA18620 NA18620 223 | HG00345 HG00345 224 | HG01171 HG01171 225 | NA18945 NA18945 226 | HG02878 HG02878 227 | HG01802 HG01802 228 | HG03433 HG03433 229 | HG01392 HG01392 230 | HG00622 HG00622 231 | HG02471 HG02471 232 | HG02084 HG02084 233 | HG00244 HG00244 234 | HG02139 HG02139 235 | HG03025 HG03025 236 | NA20332 NA20332 237 | HG01303 HG01303 238 | NA19152 NA19152 239 | HG01595 HG01595 240 | HG02082 HG02082 241 | NA18984 NA18984 242 | NA12046 NA12046 243 | HG01527 HG01527 244 | NA19108 NA19108 245 | HG03100 HG03100 246 | HG00160 HG00160 247 | NA18876 NA18876 248 | NA11918 NA11918 249 | HG00173 HG00173 250 | NA20764 NA20764 251 | HG01188 HG01188 252 | HG00251 HG00251 253 | HG00372 HG00372 254 | HG01699 HG01699 255 | HG02571 HG02571 256 | HG00133 HG00133 257 | NA20910 NA20910 258 | NA20502 NA20502 259 | NA18864 NA18864 260 | HG01867 HG01867 261 | HG03124 HG03124 262 | HG02364 HG02364 263 | HG02407 HG02407 264 | NA11840 NA11840 265 | HG01849 HG01849 266 | NA19446 NA19446 267 | HG03485 HG03485 268 | HG01848 HG01848 269 | HG01842 HG01842 270 | NA19066 NA19066 271 | NA19834 NA19834 272 | NA18505 NA18505 273 | NA19394 NA19394 274 | NA18940 NA18940 275 | HG00442 HG00442 276 | NA12383 NA12383 277 | HG02817 HG02817 278 | HG02383 HG02383 279 | NA19082 NA19082 280 | HG00448 HG00448 281 | HG01110 HG01110 282 | HG00383 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328 | HG00186 HG00186 329 | NA19160 NA19160 330 | HG00956 HG00956 331 | NA18602 NA18602 332 | NA20778 NA20778 333 | NA18981 NA18981 334 | HG00533 HG00533 335 | HG00122 HG00122 336 | NA20289 NA20289 337 | HG00742 HG00742 338 | HG03268 HG03268 339 | HG02402 HG02402 340 | HG00513 HG00513 341 | NA12750 NA12750 342 | HG00350 HG00350 343 | HG00675 HG00675 344 | HG00148 HG00148 345 | NA18628 NA18628 346 | HG03479 HG03479 347 | NA20795 NA20795 348 | HG00136 HG00136 349 | NA20127 NA20127 350 | HG02020 HG02020 351 | HG01431 HG01431 352 | NA18977 NA18977 353 | HG00982 HG00982 354 | HG00319 HG00319 355 | NA18544 NA18544 356 | HG03270 HG03270 357 | HG02332 HG02332 358 | NA19204 NA19204 359 | HG01603 HG01603 360 | HG02642 HG02642 361 | HG02923 HG02923 362 | NA20320 NA20320 363 | HG02611 HG02611 364 | HG02010 HG02010 365 | NA18610 NA18610 366 | HG03086 HG03086 367 | HG02589 HG02589 368 | NA18542 NA18542 369 | NA19792 NA19792 370 | NA19213 NA19213 371 | NA18615 NA18615 372 | NA18522 NA18522 373 | 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HG02274 HG02274 2005 | HG02275 HG02275 2006 | HG02277 HG02277 2007 | HG02278 HG02278 2008 | HG02285 HG02285 2009 | HG02286 HG02286 2010 | HG02291 HG02291 2011 | HG02292 HG02292 2012 | HG02298 HG02298 2013 | HG02299 HG02299 2014 | HG02301 HG02301 2015 | HG02304 HG02304 2016 | HG02312 HG02312 2017 | HG02345 HG02345 2018 | HG02348 HG02348 2019 | HG02425 HG02425 2020 | HG02491 HG02491 2021 | HG02600 HG02600 2022 | HG02601 HG02601 2023 | HG02652 HG02652 2024 | HG02657 HG02657 2025 | HG02658 HG02658 2026 | HG02660 HG02660 2027 | HG02661 HG02661 2028 | HG02684 HG02684 2029 | HG02685 HG02685 2030 | HG02687 HG02687 2031 | HG02688 HG02688 2032 | HG02696 HG02696 2033 | HG02724 HG02724 2034 | HG02725 HG02725 2035 | HG02727 HG02727 2036 | HG02728 HG02728 2037 | HG02731 HG02731 2038 | HG02774 HG02774 2039 | HG02775 HG02775 2040 | HG02778 HG02778 2041 | HG02780 HG02780 2042 | HG02783 HG02783 2043 | HG02784 HG02784 2044 | HG02786 HG02786 2045 | HG02787 HG02787 2046 | HG02789 HG02789 2047 | HG02790 HG02790 2048 | HG02792 HG02792 2049 | HG02793 HG02793 2050 | HG03006 HG03006 2051 | HG03007 HG03007 2052 | HG03009 HG03009 2053 | HG03012 HG03012 2054 | HG03015 HG03015 2055 | HG03016 HG03016 2056 | HG03018 HG03018 2057 | HG03019 HG03019 2058 | HG03021 HG03021 2059 | HG03022 HG03022 2060 | HG03228 HG03228 2061 | HG03229 HG03229 2062 | HG03234 HG03234 2063 | HG03235 HG03235 2064 | HG03490 HG03490 2065 | HG03491 HG03491 2066 | HG03585 HG03585 2067 | HG03589 HG03589 2068 | HG03593 HG03593 2069 | HG03594 HG03594 2070 | HG03595 HG03595 2071 | HG03598 HG03598 2072 | HG03600 HG03600 2073 | HG03603 HG03603 2074 | HG03604 HG03604 2075 | HG03607 HG03607 2076 | HG03611 HG03611 2077 | HG03615 HG03615 2078 | HG03616 HG03616 2079 | HG03629 HG03629 2080 | HG03631 HG03631 2081 | HG03636 HG03636 2082 | HG03640 HG03640 2083 | HG03642 HG03642 2084 | HG03643 HG03643 2085 | HG03644 HG03644 2086 | HG03645 HG03645 2087 | HG03646 HG03646 2088 | HG03649 HG03649 2089 | HG03652 HG03652 2090 | HG03653 HG03653 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HG03965 HG03965 2265 | HG03967 HG03967 2266 | HG03968 HG03968 2267 | HG03969 HG03969 2268 | HG03971 HG03971 2269 | HG03973 HG03973 2270 | HG03974 HG03974 2271 | HG03976 HG03976 2272 | HG03977 HG03977 2273 | HG03978 HG03978 2274 | HG03985 HG03985 2275 | HG03986 HG03986 2276 | HG03989 HG03989 2277 | HG03990 HG03990 2278 | HG03991 HG03991 2279 | HG03995 HG03995 2280 | HG03998 HG03998 2281 | HG03999 HG03999 2282 | HG04001 HG04001 2283 | HG04002 HG04002 2284 | HG04003 HG04003 2285 | HG04006 HG04006 2286 | HG04014 HG04014 2287 | HG04015 HG04015 2288 | HG04017 HG04017 2289 | HG04018 HG04018 2290 | HG04019 HG04019 2291 | HG04020 HG04020 2292 | HG04022 HG04022 2293 | HG04023 HG04023 2294 | HG04025 HG04025 2295 | HG04026 HG04026 2296 | HG04029 HG04029 2297 | HG04033 HG04033 2298 | HG04035 HG04035 2299 | HG04038 HG04038 2300 | HG04039 HG04039 2301 | HG04042 HG04042 2302 | HG04047 HG04047 2303 | HG04054 HG04054 2304 | HG04056 HG04056 2305 | HG04059 HG04059 2306 | HG04060 HG04060 2307 | HG04061 HG04061 2308 | HG04062 HG04062 2309 | HG04063 HG04063 2310 | HG04070 HG04070 2311 | HG04075 HG04075 2312 | HG04076 HG04076 2313 | HG04080 HG04080 2314 | HG04090 HG04090 2315 | HG04093 HG04093 2316 | HG04094 HG04094 2317 | HG04096 HG04096 2318 | HG04098 HG04098 2319 | HG04099 HG04099 2320 | HG04100 HG04100 2321 | HG04106 HG04106 2322 | HG04107 HG04107 2323 | HG04118 HG04118 2324 | HG04131 HG04131 2325 | HG04134 HG04134 2326 | HG04140 HG04140 2327 | HG04141 HG04141 2328 | HG04144 HG04144 2329 | HG04146 HG04146 2330 | HG04152 HG04152 2331 | HG04153 HG04153 2332 | HG04155 HG04155 2333 | HG04156 HG04156 2334 | HG04158 HG04158 2335 | HG04159 HG04159 2336 | HG04161 HG04161 2337 | HG04162 HG04162 2338 | HG04164 HG04164 2339 | HG04171 HG04171 2340 | HG04173 HG04173 2341 | HG04176 HG04176 2342 | HG04177 HG04177 2343 | HG04180 HG04180 2344 | HG04182 HG04182 2345 | HG04183 HG04183 2346 | HG04185 HG04185 2347 | HG04186 HG04186 2348 | HG04188 HG04188 2349 | HG04189 HG04189 2350 | HG04194 HG04194 2351 | HG04195 HG04195 2352 | HG04198 HG04198 2353 | HG04200 HG04200 2354 | HG04202 HG04202 2355 | HG04206 HG04206 2356 | HG04209 HG04209 2357 | HG04210 HG04210 2358 | HG04211 HG04211 2359 | HG04212 HG04212 2360 | HG04214 HG04214 2361 | HG04216 HG04216 2362 | HG04219 HG04219 2363 | HG04222 HG04222 2364 | HG04225 HG04225 2365 | HG04227 HG04227 2366 | HG04229 HG04229 2367 | HG04235 HG04235 2368 | HG04238 HG04238 2369 | HG04239 HG04239 2370 | NA19654 NA19654 2371 | NA19657 NA19657 2372 | NA19661 NA19661 2373 | NA19663 NA19663 2374 | NA19664 NA19664 2375 | NA19670 NA19670 2376 | NA19681 NA19681 2377 | NA19682 NA19682 2378 | NA19716 NA19716 2379 | NA19717 NA19717 2380 | NA19719 NA19719 2381 | NA19720 NA19720 2382 | NA19722 NA19722 2383 | NA19723 NA19723 2384 | NA19726 NA19726 2385 | NA19728 NA19728 2386 | NA19729 NA19729 2387 | NA19732 NA19732 2388 | NA19734 NA19734 2389 | NA19735 NA19735 2390 | NA19740 NA19740 2391 | NA19741 NA19741 2392 | NA19746 NA19746 2393 | NA19747 NA19747 2394 | 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NA20884 2438 | NA20885 NA20885 2439 | NA20887 NA20887 2440 | NA20888 NA20888 2441 | NA20889 NA20889 2442 | NA20891 NA20891 2443 | NA20892 NA20892 2444 | NA20894 NA20894 2445 | NA20895 NA20895 2446 | NA20896 NA20896 2447 | NA20897 NA20897 2448 | NA20899 NA20899 2449 | NA20900 NA20900 2450 | NA20901 NA20901 2451 | NA20902 NA20902 2452 | NA20903 NA20903 2453 | NA20905 NA20905 2454 | NA20906 NA20906 2455 | NA20908 NA20908 2456 | NA20911 NA20911 2457 | NA21086 NA21086 2458 | NA21087 NA21087 2459 | NA21088 NA21088 2460 | NA21089 NA21089 2461 | NA21090 NA21090 2462 | NA21091 NA21091 2463 | NA21092 NA21092 2464 | NA21093 NA21093 2465 | NA21094 NA21094 2466 | NA21095 NA21095 2467 | NA21097 NA21097 2468 | NA21098 NA21098 2469 | NA21099 NA21099 2470 | NA21100 NA21100 2471 | NA21101 NA21101 2472 | NA21102 NA21102 2473 | NA21103 NA21103 2474 | NA21104 NA21104 2475 | NA21105 NA21105 2476 | NA21106 NA21106 2477 | NA21107 NA21107 2478 | NA21109 NA21109 2479 | NA21110 NA21110 2480 | NA21111 NA21111 2481 | NA21112 NA21112 2482 | NA21113 NA21113 2483 | NA21114 NA21114 2484 | NA21115 NA21115 2485 | NA21116 NA21116 2486 | NA21117 NA21117 2487 | NA21118 NA21118 2488 | NA21119 NA21119 2489 | NA21120 NA21120 2490 | NA21122 NA21122 2491 | NA21123 NA21123 2492 | NA21124 NA21124 2493 | NA21125 NA21125 2494 | NA21126 NA21126 2495 | NA21127 NA21127 2496 | NA21128 NA21128 2497 | NA21129 NA21129 2498 | NA21130 NA21130 2499 | NA21133 NA21133 2500 | NA21135 NA21135 2501 | NA21137 NA21137 2502 | NA21141 NA21141 2503 | NA21142 NA21142 2504 | NA21143 NA21143 2505 | NA21144 NA21144 2506 | -------------------------------------------------------------------------------- /input_files/Study_with_errors_in_Genotype_files/SSM.txt: -------------------------------------------------------------------------------- 1 | Subject Sample 2 | HG00310 HG00310 3 | NA18557 NA18557 4 | HG00189 HG00189 5 | NA20278 NA20278 6 | HG03074 HG03074 7 | HG01515 HG01515 8 | NA18966 NA18966 9 | HG01395 HG01395 10 | HG01522 HG01522 11 | HG01384 HG01384 12 | NA18537 NA18537 13 | HG03259 HG03259 14 | HG02860 HG02860 15 | NA19197 NA19197 16 | HG01985 HG01985 17 | HG03238 HG03238 18 | NA19452 NA19452 19 | HG02012 HG02012 20 | HG00127 HG00127 21 | HG01092 HG01092 22 | NA19004 NA19004 23 | NA18566 NA18566 24 | HG00174 HG00174 25 | HG00343 HG00343 26 | NA20809 NA20809 27 | HG00263 HG00263 28 | HG01075 HG01075 29 | HG00864 HG00864 30 | HG02165 HG02165 31 | HG02389 HG02389 32 | HG01489 HG01489 33 | NA12156 NA12156 34 | NA19248 NA19248 35 | HG03499 HG03499 36 | NA18574 NA18574 37 | HG03063 HG03063 38 | HG03294 HG03294 39 | HG02186 HG02186 40 | HG00690 HG00690 41 | HG03139 HG03139 42 | NA20342 NA20342 43 | NA20298 NA20298 44 | NA19707 NA19707 45 | HG02970 HG02970 46 | NA19062 NA19062 47 | HG03118 HG03118 48 | HG00258 HG00258 49 | NA19257 NA19257 50 | HG02759 HG02759 51 | NA07347 NA07347 52 | NA19355 NA19355 53 | HG01462 HG01462 54 | NA19401 NA19401 55 | HG01670 HG01670 56 | HG00105 HG00105 57 | NA20769 NA20769 58 | NA19129 NA19129 59 | HG01912 HG01912 60 | NA18499 NA18499 61 | NA19098 NA19098 62 | HG01177 HG01177 63 | HG02449 HG02449 64 | NA18871 NA18871 65 | HG00379 HG00379 66 | NA18757 NA18757 67 | HG00596 HG00596 68 | HG03057 HG03057 69 | HG00178 HG00178 70 | NA18510 NA18510 71 | NA11992 NA11992 72 | NA20818 NA20818 73 | HG03304 HG03304 74 | HG01357 HG01357 75 | HG01509 HG01509 76 | HG03558 HG03558 77 | HG00139 HG00139 78 | HG02804 HG02804 79 | HG01620 HG01620 80 | HG00109 HG00109 81 | NA19474 NA19474 82 | HG01676 HG01676 83 | HG01816 HG01816 84 | NA20760 NA20760 85 | HG00096 HG00096 86 | HG01506 HG01506 87 | HG00324 HG00324 88 | HG00280 HG00280 89 | HG03109 HG03109 90 | NA19439 NA19439 91 | HG01863 HG01863 92 | NA18969 NA18969 93 | HG01694 HG01694 94 | HG00766 HG00766 95 | HG01885 HG01885 96 | NA19011 NA19011 97 | NA19009 NA19009 98 | NA19038 NA19038 99 | HG02401 HG02401 100 | HG00736 HG00736 101 | NA20509 NA20509 102 | HG00155 HG00155 103 | NA18489 NA18489 104 | NA18593 NA18593 105 | HG01378 HG01378 106 | HG01852 HG01852 107 | HG02667 HG02667 108 | NA20828 NA20828 109 | NA19922 NA19922 110 | NA19099 NA19099 111 | NA19092 NA19092 112 | HG02113 HG02113 113 | NA20759 NA20759 114 | HG01121 HG01121 115 | HG02230 HG02230 116 | HG00653 HG00653 117 | NA20753 NA20753 118 | HG02073 HG02073 119 | NA19334 NA19334 120 | HG00117 HG00117 121 | NA20798 NA20798 122 | HG02322 HG02322 123 | NA19026 NA19026 124 | HG02621 HG02621 125 | NA12889 NA12889 126 | HG03045 HG03045 127 | HG01405 HG01405 128 | NA19312 NA19312 129 | HG02643 HG02643 130 | NA18961 NA18961 131 | HG00236 HG00236 132 | HG02574 HG02574 133 | HG01259 HG01259 134 | HG00708 HG00708 135 | NA20524 NA20524 136 | HG02053 HG02053 137 | HG01089 HG01089 138 | NA12815 NA12815 139 | NA19210 NA19210 140 | NA19024 NA19024 141 | NA19235 NA19235 142 | HG01775 HG01775 143 | HG00325 HG00325 144 | NA18632 NA18632 145 | HG01868 HG01868 146 | HG01326 HG01326 147 | HG02772 HG02772 148 | NA20515 NA20515 149 | HG02734 HG02734 150 | NA18526 NA18526 151 | NA19457 NA19457 152 | NA20862 NA20862 153 | NA20772 NA20772 154 | HG01048 HG01048 155 | HG02256 HG02256 156 | NA19435 NA19435 157 | NA18611 NA18611 158 | NA07048 NA07048 159 | HG00275 HG00275 160 | HG01602 HG01602 161 | HG00410 HG00410 162 | HG00404 HG00404 163 | HG01705 HG01705 164 | NA11930 NA11930 165 | HG02035 HG02035 166 | NA20535 NA20535 167 | HG03382 HG03382 168 | HG00629 HG00629 169 | NA18978 NA18978 170 | HG00475 HG00475 171 | HG03539 HG03539 172 | NA20805 NA20805 173 | HG01598 HG01598 174 | HG03457 HG03457 175 | HG02493 HG02493 176 | NA19319 NA19319 177 | NA07000 NA07000 178 | NA21108 NA21108 179 | HG01678 HG01678 180 | HG00366 HG00366 181 | NA18953 NA18953 182 | HG01862 HG01862 183 | HG00123 HG00123 184 | NA19372 NA19372 185 | HG02545 HG02545 186 | NA19908 NA19908 187 | HG01632 HG01632 188 | HG01550 HG01550 189 | NA18916 NA18916 190 | HG01107 HG01107 191 | HG03193 HG03193 192 | NA20506 NA20506 193 | HG00271 HG00271 194 | HG01771 HG01771 195 | HG02597 HG02597 196 | HG00557 HG00557 197 | HG01440 HG01440 198 | HG03563 HG03563 199 | HG03081 HG03081 200 | HG00537 HG00537 201 | HG01060 HG01060 202 | HG00330 HG00330 203 | HG00458 HG00458 204 | HG00150 HG00150 205 | NA18634 NA18634 206 | HG01108 HG01108 207 | NA20530 NA20530 208 | NA19035 NA19035 209 | HG02057 HG02057 210 | HG01365 HG01365 211 | HG01861 HG01861 212 | HG02979 HG02979 213 | HG01097 HG01097 214 | HG01137 HG01137 215 | HG02561 HG02561 216 | HG03024 HG03024 217 | HG00311 HG00311 218 | HG01498 HG01498 219 | HG03473 HG03473 220 | HG00671 HG00671 221 | HG01474 HG01474 222 | NA18620 NA18620 223 | HG00345 HG00345 224 | HG01171 HG01171 225 | NA18945 NA18945 226 | HG02878 HG02878 227 | HG01802 HG01802 228 | HG03433 HG03433 229 | HG01392 HG01392 230 | HG00622 HG00622 231 | HG02471 HG02471 232 | HG02084 HG02084 233 | HG00244 HG00244 234 | HG02139 HG02139 235 | HG03025 HG03025 236 | NA20332 NA20332 237 | HG01303 HG01303 238 | NA19152 NA19152 239 | HG01595 HG01595 240 | HG02082 HG02082 241 | NA18984 NA18984 242 | NA12046 NA12046 243 | HG01527 HG01527 244 | NA19108 NA19108 245 | HG03100 HG03100 246 | HG00160 HG00160 247 | NA18876 NA18876 248 | NA11918 NA11918 249 | HG00173 HG00173 250 | NA20764 NA20764 251 | HG01188 HG01188 252 | HG00251 HG00251 253 | HG00372 HG00372 254 | HG01699 HG01699 255 | HG02571 HG02571 256 | HG00133 HG00133 257 | NA20910 NA20910 258 | NA20502 NA20502 259 | NA18864 NA18864 260 | HG01867 HG01867 261 | HG03124 HG03124 262 | HG02364 HG02364 263 | HG02407 HG02407 264 | NA11840 NA11840 265 | HG01849 HG01849 266 | NA19446 NA19446 267 | HG03485 HG03485 268 | HG01848 HG01848 269 | HG01842 HG01842 270 | NA19066 NA19066 271 | NA19834 NA19834 272 | NA18505 NA18505 273 | NA19394 NA19394 274 | NA18940 NA18940 275 | HG00442 HG00442 276 | NA12383 NA12383 277 | HG02817 HG02817 278 | HG02383 HG02383 279 | NA19082 NA19082 280 | HG00448 HG00448 281 | HG01110 HG01110 282 | HG00383 HG00383 283 | HG02075 HG02075 284 | NA18582 NA18582 285 | NA19027 NA19027 286 | HG03342 HG03342 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