└── README.md /README.md: -------------------------------------------------------------------------------- 1 | ## Genetics 2 | BSMS 205, Spring 3 | 4 | ## Instructor 5 | Joon-Yong An, PhD 6 | 7 | Assistant Professor of Human Genetics 8 | 9 | School of Biosystem and Biomedical Science, College of Health Science 10 | 11 | 12 | # 1. General Course Information 13 | ## 1.1. Course Details 14 | 15 | Coordinating Unit: School of Biosystem and Biomedical Science, College of Health Science 16 | 17 | Level: Undergraduate 18 | 19 | ## 1.2. Course Introduction 20 | Genetics is a natural science that describes variation and inheritance using genetic components. The main aim of the course is to develop a critical understanding of the foundations of genetic theory and research. Our approach is a bottom-up hierarchical one: fundamental knowledge on population genetics and molecular genetics is essential for the understanding of genetic principles and higher-level translational or disease pathology. It will discuss a wide range of genetics topics: a history of genetic models, methodology and data modality; large human genetic consortium and study design for genetic disorders. 21 | 22 | In addition, the course will aim to inculcate a feeling of interest in some students who may want to go on to study more advanced topics such as basic genetics or the genomics of diseases and prepare them with the methodological background to approach these issues. Students who attend this course will be given an up-to-date knowledge of how the genetics works in traits and population at its most fundamental level. It will also provide the latest knowledge on our understanding of the latest genetic and genomic technologies. 23 | 24 | 25 | # 2. Aims, Objectives & Graduate Attributes 26 | ## 2.1 Course Aims 27 | 28 | The aim of this course is to familiarise students with the discipline of human genetics, a field through which we can integrate the fundamental concepts of most of the biological disciplines. Students will develop an appreciation of modern genetics while gaining a detailed understanding of the genetic fundamentals from heritability to genetic architecture of traits, as well as learning experimental design, methodology, data collection and basic interpretation skills in human genetics. Completion of this course will assure a sound basis for all biology-focused studies and provide key knowledge required to enable transition into advanced biological courses in third year. Many scientific employers and graduate supervisors see a strong understanding of genetics as a highly valuable characteristic in their laboratory members. 29 | 30 | ## 2.2 Learning Objectives 31 | 32 | After successfully completing this course you should be able to: 33 | 34 | 1 Understand the genetic model to describe human traits, comprehend the genetic contribution to phenotype. 35 | 36 | 2 Understand the quantitative nature of human genetics and traits, and develop an appreciation of how the polygenic background impacts on human diseases. 37 | 38 | 3 Understand the molecular basis of inheritance and understand fundamental mechanisms that enable the transmission of genetic material. 39 | 40 | 4 Understand the role of genetic variations in natural population. 41 | 42 | 5 Understand the development of genetic screening and high-throughput genomic technologies. 43 | 44 | 6 Understand the core concept of genetic association studies, statistical methodology and experimental design. 45 | 46 | 7 Review and critique papers published in the field of human genetics. 47 | 48 | 8 Integrate the broad concepts of this discipline in the context of human genetics and develop an appreciation of how these advances are perceived by Society. 49 | 50 | 51 | # 3. Learning Resources 52 | No mandatory textbook for this lecture. Slides will include required reading materials for each session. Slides and materials will be posted on the Blackboard as these become available. 53 | 54 | 55 | # 4. Teaching & Learning Activities 56 | ## 4.1 Learning Activities 57 | 58 | ### Session 1. Introduction 59 | 60 | [Session 1. Introduction](https://docs.google.com/presentation/d/1vWXKGbpvWOzAxKGha6JTTdDtOX1AjT2WfIrXt9qvf3w/edit?usp=sharing) 61 | 62 | ### Session 2. Human Heredity and Inheritance 63 | 64 | [Session 2-1. Mendelian Genetics](https://docs.google.com/presentation/d/17C4Cv5-VJ46ZpDq6zU5KbT6hpG3zX5fDUdm6Gp04RsE/edit?usp=sharing) 65 | 66 | [Session 2-2. Biometrical Genetics](https://docs.google.com/presentation/d/1j89FJrnInVLMprmsK9Y0sBcA6fvIEnSFB5H6aOg00OM/edit?usp=sharing) 67 | 68 | [Session 2-3. Hardy Weinberg Equilibrium](https://docs.google.com/presentation/d/1rFYfU3rpPENQXFxkHsM0uXWKkS-lHjuSXo5w8Yr8lIQ/edit?usp=sharing) 69 | 70 | [Session 2-4. Chromosome and Sex](https://docs.google.com/presentation/d/1vDTuLMrLSjB1ppkhqRDeHuM0rv8J2dE2UEpua6pu6Eo/edit?usp=sharing) 71 | 72 | [Session 2-5. Gene](https://docs.google.com/presentation/d/1hANHa4eK6TnZVc4nOu3ZJHEiTo0o8ID7WzYLNIlaAZM/edit?usp=sharing) 73 | 74 | [Session 2-6. Heritability](https://docs.google.com/presentation/d/1SnTyzibAn29w7qyCKcza2Q0nCNlfvCHQWUodBCnjY74/edit?usp=sharing) 75 | 76 | ### Session 3. Mutation and Population 77 | 78 | [Session 3-1. Mutation](https://docs.google.com/presentation/d/1-HXAbXKSBv8TrirsTwn9ZwRMki5TAau1f-t9EooMSkM/edit?usp=sharing) 79 | 80 | [Session 3-2. Linkage disequilibrium and haplotype](https://docs.google.com/presentation/d/1N-5R2P2hjit9xpYqKYirOncV9de3Mw_36RV65AlQJ6Q/edit?usp=sharing) 81 | 82 | [Session 3-3. Population structure](https://docs.google.com/presentation/d/1jHj87Mjl715VpW0hjMsf8XgsR7N4p6gi_7F3v_SlN64/edit?usp=sharing) 83 | 84 | [Session 3-4. Inbreeding](https://docs.google.com/presentation/d/1r9UFG45of9Eg9dJ6zFOFLpFy4YCYB-dVIRLDtDeSG1Y/edit?usp=sharing) 85 | 86 | 87 | ### Mid term exam preparation 88 | 89 | Review Session 2 90 | 91 | Review Session 3 92 | 93 | Mid term exam 94 | ([questions](https://docs.google.com/document/d/1SBrnTt_cbxD_zVLHUZzfAIlW8CXLqAVrPU1nTLwpc9c/edit?usp=sharing), 95 | [format](https://docs.google.com/presentation/d/1fETf5FOBBD75fGQs66k9tDiZlaBbaL5zh_ph9FiyiEs/edit?usp=sharing), 96 | [Results and feedbacks (5/7)](https://docs.google.com/presentation/d/179KHlQWEQ09umqCF8bV-bwHb_oQPhT8hni0Ydw4uQTc/edit?usp=sharing)) 97 | 98 | 99 | ### Session 4. Human Genome 100 | 101 | [Session 4-1. Genome](https://docs.google.com/presentation/d/1qcB5lt9D6ctyiCPf8wX4w6YNu9lNfBGvSbCLYVD7hSI/edit?usp=sharing) 102 | 103 | [Session 4-2. Next generation sequencing](https://docs.google.com/presentation/d/12ioYn9M-IytQJCurEPWGMMA8XMQ3m7ns_UDgFMJISvI/edit?usp=sharing) 104 | 105 | [Session 4-3. Data modality1](https://docs.google.com/presentation/d/1D3TENJ5M5oTzO6WY0vX4TSmV4rnmS7Ql2M6taMxpXDo/edit?usp=sharing) 106 | 107 | [Session 4-4. Data modality2](https://docs.google.com/presentation/d/1RBr8JdBAsXo1P2VdNuYITaRAZ2BBQouRnbV7LQN1ezo/edit?usp=sharing) 108 | 109 | ### Session 5. Genetics in human diseases 110 | 111 | [Session 5-1. Genetic architecture](https://docs.google.com/presentation/d/1qAfNT0yZ3Snkb5zArz_1dgfp25zDMJo8il9qFeiUw2g/edit?usp=sharing) 112 | 113 | [Session 5-2. Genetic disorders](https://docs.google.com/presentation/d/1ScpY7icZct9p-FusROiC0Q-7tc81pO2XenQLJrRo5oA/edit?usp=sharing) 114 | 115 | [Session 5-3. Experimental design](https://docs.google.com/presentation/d/1n6r414HUejA0McChJC0ZmsZoH5DfHlWo5D_-Mdi-8yU/edit?usp=sharing) 116 | 117 | Session 5-4. Case study 1 & 2 118 | 119 | 120 | ### Final exam preparation 121 | 122 | Review Session 4 & 5 123 | 124 | Final exam [(questions)](https://docs.google.com/document/d/1VaCC9sKGd3oQkCU8B8rkPwLs3d4NG09EmVOuu99eE3I/edit?usp=sharing) 125 | 126 | 127 | # 5. Assignment 128 | 129 | [Written Assignment on latest genetic studies (due 17th May)](https://docs.google.com/document/d/1kgE9Qfi0moSKGuwI8a1J-weHqmV086ez2sbwTODtkfg/edit?usp=sharing) 130 | 131 | This [link 'Writing, citing and submitting assignments'](https://web.library.uq.edu.au/research-tools-techniques/assignment-essentials/writing-citing-and-submitting-assignments) would be useful for your assignment preparation. Please have a read on the following sections - 1. Writing or creating assignments, 2. Plagiarism, 3. Referencing. 132 | 133 | # 6. Resources 134 | 135 | [Lecture Notes (English + Korean)](https://docs.google.com/document/d/1L_vF2S7xp4wI6u_rW6gPxWP09l99d7VbEEQm_R8GLgA/edit?usp=sharing) 136 | 137 | # 7. Misc. 138 | 139 | [오늘 뭐읽지?](http://www.piku.co.kr/w/8flMWN) 140 | 141 | --------------------------------------------------------------------------------