Changes
From Statistical Genetics Courses
/* General Information */
The course emphasis is on analyzing sequence and other omics data to elucidate the genetic etiology of complex human disease traits. Topics will include: data quality control of sequence and other types of data; single variant and aggregate rare variant association analysis of whole-genome data (genotype, sequence, and imputed) for qualitative and quantitative traits (population and family data); controlling for population admixture and substructure; linear mixed models (LMM) and generalized LMM (GLMM); meta-analysis; sample size estimation and power calculations; detecting gene x gene and gene x environmental interactions; heritability estimation; transcriptome-wide association studies (TWAS); analysis of RNA-Seq data; eQTL mapping; elucidating pleiotropy; functional prediction and variant annotation; estimation of polygenic risk scores; Mendelian randomization; mediation analysis; LDclumping and fine mapping.''' '''As mandated by the NIH there will also be a special session on responsible conduct of research that will include sessions on conflict of interest, research ethics, data management (security), and ethical use of human research subjects.
A variety of freely available software will be used to perform the practical exercises, due to differences in their functionality.FaST-LMM, GCTA, REGENIE will be implemented to analyze population- and family data by applying GLMM and LMM. PLINK will be used to perform data quality control and association analysis controlling for population admixture and substructures. REGENIE, VAT, and PSEQ will be used to perform data quality control of sequence data and perform rare variant aggregate association analysis. Mediation analysis will be performed using Multiphen and R to aid in distinguishing between biological, mediated, and spurious pleiotropy. To make inferences on causality, Mendelian randomization will be performed using MRbase. MR-JTI will be used to perform TWAS analysis. Estimation of polygenic risk scores will be performed using LDpred2. SuSiE will be used for fine mapping to aid in the detection of causal susceptibility variants. Heritability estimates will be performed using LDSC. Imputation and Analysis of imputed RNAseq expression data will be performed by applying FUSION; To To perform analytical and empirical power analysis for single and rare variant aggregate tests, a variety of tools will be used that include the Armitage Power Tool. Additionally, variant annotation will be performed with ANNOVAR as well as directly using a variety of functional prediction and conservation tools, e.g. CADD, GERP, MutationTaster, MutPred, Polyphen-2, and SIFT.
==Course Instructors==
