HMB321H1 Study Guide - Final Guide: Allele Frequency, National Institutes Of Health, Genotyping

46 views17 pages

Document Summary

How to interpret a gwas - pearson and manolo(answer gwas short answer ques) A gwa study is defined by the nih as a study of common genetic variation across the entire human genome designed to identify genetic associations with observable traits. The present discussion focuses on studies attempting to assay at least 100,000. Snps selected to serve as proxies for the largest possible number of snps. While gwas has been used to identify snps associated with common diseases, the technique can be used to find genetic variants to quantitative traits such as height, and to rank the relative importance of the previously identified susceptibility genes. Gwas can also demonstrate gene-gene interactions or modification of the association of one genetic variant by another and can detect high-risk haplotypes or combinations of multiple snps within a single gene. These studies have been also used to identify snps associated with gene expression, either as a confirmation of a phenotypic association or more globally.