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Article

BETASEQ: a powerful novel method to control type-I error inflation in partially sequenced data for rare variant association testing.

Bioinformatics (Oxford, England) - 15 Feb 2014

Yan Song, Li Yun

Abstract excerpt

SUMMARY: Despite its great capability to detect rare variant associations, next-generation sequencing is still prohibitively expensive when applied to large samples. In case-control studies, it is thus appealing to sequence only a subset of cases to discover variants and genotype the identified variants in controls and the remaining cases under the reasonable assumption that causal variants are usually enriched...

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Identifiers

PMID: 24336643
DOI: 10.1093/bioinformatics/btt719
PMCID: PMC3928526

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