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HMB321H1 Lecture Notes - Lecture 14: Genome-Wide Association Study, Snp Genotyping, Quality Control

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pucemosquito864
8 Oct 2011
School
UTSG
Department
Human Biology
Course
HMB321H1
Professor
Maria Papaconstantinou

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Document Summary

Where a common phenotype is associated with a common variant. Thus, doing a gwas in a large cohort of individuals may be able to nd that common marker. Nih gwas (de nition) = study of common genetic variation across entire human genome to identify genetic associations with observable traits. Can compare affected to unaffected (case-control) vs. observed/expected p(x) of shared markers. Not hypothesis driven (i. e. search and then make hypothesis) vs. hypothesis driven. Beyond nding disease genes => can be used to . (b) isolate dna and genotype (snp genotyping must pass quality control threshold) Make sure each variant is a true variant (not something common to all) (d) replicate in additional cohort + perform functional experiments. Start with clinical records, i. e. databanks => proper selection of groups is key (can alter results, Start with clinical records, i. e. databanks => proper selection of groups is key (can alter results, e. g. women vs. men in a study, e. g. 2.

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Related Questions

A SNP is identified in a genome-wide association study that is significantly associated with a disease and which has an odds ratio of 3 for that trait. This means that:

-a variant linked to that SNP is three times as likely to be found in affected individuals than the common variant.

-that variant is three times as likely to be found in affected individuals than the common variant.

-a variant linked to that SNP increases risk of developing the disease three-fold.

-that variant increases risk of developing the disease three-fold.

Genome wide association studies (GWAS) are used to identify human genes that contribute to complex traits. Describe the genetic basis of complex traits, in terms of the effect of mutations, the frequency of mutations and how many genes contribute, and give an example of a human condition that has been studied using GWAS.

You have identified a candidate variant that you believe causes a rare Mendelian genetic disease. Which of the following pieces of evidence would best support this hypothesis? (select two answers)

- It is found in many individuals in the general population.

- It is found exclusively in individuals with the disease.

- It is a nonsense variant near the 5’ end of a gene.

-It is a silent variant near the 5’ end of a gene.