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6.881  Computational Personal Genomics

Spring 2018

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Instructor: Manolis Kellis

TAs: Yongjin Park, Alvin Houze Shi

Lecture:  M4-6  (32-124)        

Class Overview: 

6.881 - Computational Personal Genomics
Units: 2-0-10 (G)
Prereqs: 6.047 or equivalent, or permission of instructor.
Date: Monday 4-6pm (first meeting: Tuesday February 20, 2018)
Room: 32-124 (MIT Stata Center, 32 Vassar St)
Instructor: Manolis Kellis
Course website: http://compbio.mit.edu/6.881

With the growing availability and lowering costs of genotyping and personal genome sequencing, the focus has shifted from the ability to obtain one's genome sequence to the ability to make sense of the resulting information. This course is aimed at exploring the computational challenges associated with interpreting how sequence differences between individuals lead to phenotypic differences,
including differences in disease predisposition, gene expression, or response to treatment.

Topics include:
- genetic variation, linkage disequilibrium, imputation, haplotype phasing
- genetic association, GWAS, common vs. rare variant analysis
- mechanistic dissection of coding and non-coding associations
- Bayesian fine-mapping and multi-dimensional GWAS
- intermediate phenotypes, expression QTLs, Mendelian randomization
- systems genetics, heritability partitioning, polygenic risk prediction
- single-cell profiling analysis of transcription and epigenomic variation
- cancer genomics, clonality, immunotherapty, recurrence, immunoprofiling
- experimental manipulations, genome editing, multiplexed experiments
- ethics: consumer genetics, consent, privacy, screening, editing

Each week, we will read and discuss seminal papers in each area, download, use, and extend software for interpreting genetic variation, and cover current research directions and open challenges. In addition, students will complete a term project that builds on one or more labs.

Qualifies for theory or AI engineering concentration.
Students can petition to earn 6 EDPs.
For more information, and a list of topics and papers discussed,
please visit: http://compbio.mit.edu/6.881

Github for the labs: https://github.com/YPARK/6.881

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