Manolis Kellis
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MIT Deep Learning in Genomics - Lecture 16 - Genetics 1: GWAS, Linkage, Fine-Mapping
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April 9, 2020
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1:20:22Now PlayingLecture 16 - Genetics 1: GWAS, Linkage, Fine-Mapping
MIT 6.874 Lecture 16. Spring 2020
Course website
Lecture 16 slides
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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