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Article

A general framework for identifying oligogenic combinations of rare variants in complex disorders.

Genome research - 1 May 2022

Pounraja Vijay Kumar, Girirajan Santhosh

Abstract excerpt

Genetic studies of complex disorders such as autism and intellectual disability (ID) are often based on enrichment of individual rare variants or their aggregate burden in affected individuals compared to controls. However, these studies overlook the influence of combinations of rare variants that may not be deleterious on their own due to statistical challenges resulting from rarity and combinatorial explosion...

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PMID: 35301265
DOI: 10.1101/gr.276348.121
PMCID: PMC9104696

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