├── ClassifyCNV.py ├── Examples ├── 1000Genomes.hg19.bed ├── 1000Genomes.hg38.bed ├── ACMG_examples.hg19.bed └── Sample_scoresheet_2020-07-17.txt ├── LICENSE.md ├── README.md ├── Resources ├── common │ ├── DECIPHER_HI_Predictions_Version3.bed │ ├── ExAC_pLI.txt │ └── gnomad.v2.1.1.lof_metrics.by_gene.txt ├── hg19 │ ├── 50bp_penultimate_exon.bed │ ├── Benign_TS_region_genelist.bed │ ├── ClinGen_haploinsufficiency_gene.bed │ ├── ClinGen_region_curation_list.HI.bed │ ├── ClinGen_region_curation_list.TS.bed │ ├── ClinGen_triplosensitivity_gene.bed │ ├── Enhancers.3sources.merged.bed │ ├── gene_features.bed │ ├── population_freqs.bed │ ├── promoters.500bp.bed │ └── refGenes.parsed.SelectTranscript.bed └── hg38 │ ├── 50bp_penultimate_exon.bed │ ├── Benign_TS_region_genelist.bed │ ├── ClinGen_haploinsufficiency_gene.bed │ ├── ClinGen_region_curation_list.HI.bed │ ├── ClinGen_region_curation_list.TS.bed │ ├── ClinGen_triplosensitivity_gene.bed │ ├── Enhancers.3sources.merged.bed │ ├── gene_features.bed │ ├── population_freqs.bed │ ├── promoters.500bp.bed │ └── refGenes.parsed.SelectTranscript.bed ├── parse_clingen_tsv.py ├── resources.py └── update_clingen.sh /ClassifyCNV.py: -------------------------------------------------------------------------------- https://raw.githubusercontent.com/Genotek/ClassifyCNV/HEAD/ClassifyCNV.py -------------------------------------------------------------------------------- /Examples/1000Genomes.hg19.bed: -------------------------------------------------------------------------------- https://raw.githubusercontent.com/Genotek/ClassifyCNV/HEAD/Examples/1000Genomes.hg19.bed -------------------------------------------------------------------------------- /Examples/1000Genomes.hg38.bed: -------------------------------------------------------------------------------- https://raw.githubusercontent.com/Genotek/ClassifyCNV/HEAD/Examples/1000Genomes.hg38.bed -------------------------------------------------------------------------------- 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