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Article

A New Method for Detecting Associations with Rare Copy-Number Variants.

PLoS genetics - 1 Oct 2015

Tzeng Jung-Ying, Magnusson Patrik K E, Sullivan Patrick F, Szatkiewicz Jin P

Abstract excerpt

Copy number variants (CNVs) play an important role in the etiology of many diseases such as cancers and psychiatric disorders. Due to a modest marginal effect size or the rarity of the CNVs, collapsing rare CNVs together and collectively evaluating their effect serves as a key approach to evaluating the collective effect of rare CNVs on disease risk. While a plethora of powerful collapsing methods are available...

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Identifiers

PMID: 26431523
DOI: 10.1371/journal.pgen.1005403
PMCID: PMC4592002

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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