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Lecture 16 - Genetics 1: GWAS, Linkage, Fine-Mapping MIT 6.874 Lecture 16. Spring 2020 Course website: https://mit6874.github.io/ Lecture 16 slides: https://mit6874.github.io/assets/sp20... Lecture 16 outline: Deep Learning for Human Genetics and Disease 1. Human Genetics: Inheritance, Mendel, Fisher, SNPs, STRs, alleles 2. ‘Disease gene’ hunting: Common/rare alleles, Linkage vs. GWAS 3. Evolution/scaling of GWAS power: Sharing, inflection points 4. LD, Haplotypes, Co-inheritance, and the challenge of fine-mapping 5. Machine learning tools for variant interpretation Deep variant Eigen, FunSeq2, LINSIGHT, CADD, FATHMM, ReMM, Orion, CDTS DeepSEA 6. From locus to mechanism -Case study: FTO and Obesity 7. Disease mechanism inference challenges and resources
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