Article

A Systematic Review on Extreme Phenotype Strategies to Search for Rare Variants in Genetic Studies of Complex Disorders

2020-07-24

Abstract excerpt

Exome sequencing has been commonly used in rare diseases by selecting multiplex families or singletons with an extreme phenotype (EP) to search for rare variants in coding regions. The EP strategy covers both extreme ends of a disease spectrum and it has been also used to investigate the contribution of rare variants to heritability in complex clinical traits. We have conducted a systematic review to find evidence...

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Literature Corpus work: a9f280f8-ce4a-576f-9128-3408f0d5de75
DOI: 10.20944/preprints202007.0583.v1

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