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Article

Testing Rare-Variant Association without Calling Genotypes Allows for Systematic Differences in Sequencing between Cases and Controls.

PLoS genetics - 1 May 2016

Hu Yi-Juan, Liao Peizhou, Johnston H Richard, Allen Andrew S, Satten Glen A

Abstract excerpt

Next-generation sequencing of DNA provides an unprecedented opportunity to discover rare genetic variants associated with complex diseases and traits. However, the common practice of first calling underlying genotypes and then treating the called values as known is prone to false positive findings, especially when genotyping errors are systematically different between cases and controls. This happens whenever...

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PMID: 27152526
DOI: 10.1371/journal.pgen.1006040
PMCID: PMC4859496

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BTBD18

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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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