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Article

Low frequency variants, collapsed based on biological knowledge, uncover complexity of population stratification in 1000 genomes project data.

PLoS genetics - 1 Jan 2013

Moore Carrie B, Wallace John R, Wolfe Daniel J, Frase Alex T, Pendergrass Sarah A, Weiss Kenneth M, Ritchie Marylyn D

Abstract excerpt

Analyses investigating low frequency variants have the potential for explaining additional genetic heritability of many complex human traits. However, the natural frequencies of rare variation between human populations strongly confound genetic analyses. We have applied a novel collapsing method to identify biological features with low frequency variant burden differences in thirteen populations sequenced by the...

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Identifiers

PMID: 24385916
DOI: 10.1371/journal.pgen.1003959
PMCID: PMC3873241

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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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