PPT-Common variation, GWAS & PLINK

Jeff Barrett What are the goals of disease genetics For a given disease we would like to Predict if someone will get sick how bad it will be and what treatment will work Test hypotheses about relationships to other diseases and traits. HapMap. Peter Castaldi. January 29, 2013. Objectives. Introduce the concept of linkage disequilibrium (LD). Describe how the . HapMap. project provides publically available information on genetic variation and LD structure. Lipika. Ray. 4th . June 2010. Heritability:. Phenotype (P) = genotype (G) + environmental factors (E). (observed) (unobserved) (unobserved). Variances:. Heritability is defined as ratio of variances, by expressing the proportion of the phenotypic variance that can be attributed to variance of genotypic values:. Presented by Karen . Xu. What you need to know. Basic genetic concepts behind GWAS. Genotyping technologies and common study designs . Statistical concepts for GWAS analysis. Replication, interpretation and follow-up of association results. IGSS 2015 Tutorial. Ben . Domingue. Gameplan. Overview. What are polygenic scores?. How are they used?. How are they created?. You create them.. Top hits. Homebrewed Genome-wide. PRSice. . Caveats, etc.. Jeff Barrett. Challenges to GWAS?. Data quality control . No common, single SNP main effects (all epistasis or rare variants or …). Sample size too small to detect effects. Computational . burden. Multiple . Matt . Hudson . Crop Sciences. NCSA. . HPCBio. IGB. University . of Illinois. Outline. How do we predict molecular or genetic functions using variants?. Predicting . when a coding SNP or SNV is “damaging”. Your Subtitle Goes Here. Introduction. Two objectives:. Major concepts related to human genetic variation.. Relationship between basic biomedical research and the improvement of personal and public health.. 1. Attributes of Common Cause Variation. It is the variation inherent to a Process.. It cannot be reduced unless one changes the Process.. It can be considered to be the background noise present in a Process.. Guide for ParentsThis Passover story for children ages 3-6 is part of a series of three Passover readings for children and adults created by American Jewish World Service AJWS to connect the holiday o Africa. Dr Kirk Rockett. Wellcome. Trust Advanced Courses; Genomic Epidemiology in Africa. , . 21. st. – 26. th. June 2015. Africa . Centre for Health and Population Studies, University of KwaZulu-Natal, Durban, South Africa. Hardy-Weinberg equilibrium. Meta-analysis. SNP Imputation. Review what we have learned about the genetics of common disease from GWAS. Where do we go from here? What do we go with GWAS results.. functional characterization of GWAS loci. eQTLs. Chris Cotsapas. cotsapas@broadinstitute.org. 6.047/6.878/HST.507. Computational Biology: Genomes, Networks, Evolution. Module 4: Population / Evolution / Phylogeny. L15/16: Association mapping for disease and molecular traits. Inês Barroso. Joint Head of Human Genetics. Metabolic Disease Group Leader. Wellcome. Trust Sanger Institute. 1. Objectives. Why perform meta-analysis?. How? . What are the issues to consider?. What can you gain?. (CHARGE-S). Eric Boerwinkle. Washington DC. April 7, 2010. Overall Objective. “This . proposed research will leverage existing population, laboratory and computational resources to identify susceptibility .