MIT Deep Learning in Genomics - Lecture 16 - Genetics 1: GWAS, Linkage, Fine-Mapping
Автор: Manolis Kellis
Загружено: 2020-04-09
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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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