Article
Assessing the contribution of rare genetic variants to phenotypes of chronic obstructive pulmonary disease using whole-genome sequence data.
Human molecular genetics - 10 Nov 2022
Kim Wonji, Hecker Julian, Barr R Graham, Boerwinkle Eric, Cade Brian, Correa Adolfo, Dupuis Josée, Gharib Sina A, Lange Leslie, London Stephanie J, Morrison Alanna C, O'Connor George T, Oelsner Elizabeth C, Psaty Bruce M, Vasan Ramachandran S, Redline Susan, Rich Stephen S, Rotter Jerome I, Yu Bing, Lange Christoph, Manichaikul Ani, Zhou Jin J, Sofer Tamar, Silverman Edwin K, Qiao Dandi, Cho Michael H
Abstract excerpt
RATIONALE: Genetic variation has a substantial contribution to chronic obstructive pulmonary disease (COPD) and lung function measurements. Heritability estimates using genome-wide genotyping data can be biased if analyses do not appropriately account for the nonuniform distribution of genetic effects across the allele frequency and linkage disequilibrium (LD) spectrum. In addition, the contribution of rare...
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