Article
Low coverage whole genome sequencing enables accurate assessment of common variants and calculation of genome-wide polygenic scores.
Genome medicine - 26 Nov 2019
Homburger Julian R, Neben Cynthia L, Mishne Gilad, Zhou Alicia Y, Kathiresan Sekar, Khera Amit V
Abstract excerpt
BACKGROUND: Inherited susceptibility to common, complex diseases may be caused by rare, pathogenic variants ("monogenic") or by the cumulative effect of numerous common variants ("polygenic"). Comprehensive genome interpretation should enable assessment for both monogenic and polygenic components of inherited risk. The traditional approach requires two distinct genetic testing technologies-high coverage...
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