CNVs
This video by Dr. Howrigan explains copy number variation: what is a copy number variant, and how is it detected in genetic data. Additionally, examples of CNV analyses demonstrate what a CNV file format looks like, as well as output from CNV analyses, and how to perform CNV burden and association testing on that data.
The paper referenced in this talk:
Marshall CR, Howrigan DP, et al. Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects. Nat Genet. 2017 Jan;49(1):27-35. doi: 10.1038/ng.3725. Epub 2016 Nov 21.
Title: How to Run Copy Number Variation (CNV) analysis
Presenter(s): Daniel Howrigan, PhD (Broad Institute of Harvard and MIT)
Level: Intermediate
Length: 20:03
Link to video transcript here. Tradução para o português disponível aqui.