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Article

An evaluation of approaches for rare variant association analyses of binary traits in related samples.

Scientific reports - 4 Feb 2021

Chen Ming-Huei, Pitsillides Achilleas, Yang Qiong

Abstract excerpt

Recognizing that family data provide unique advantage of identifying rare risk variants in genetic association studies, many cohorts with related samples have gone through whole genome sequencing in large initiatives such as the NHLBI Trans-Omics for Precision Medicine (TOPMed) program. Analyzing rare variants poses challenges for binary traits in that some genotype categories may have few or no observed events,...

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PMID: 33542345
DOI: 10.1038/s41598-021-82547-z
PMCID: PMC7862354

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