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Article

Two-stage extreme phenotype sequencing design for discovering and testing common and rare genetic variants: efficiency and power.

Human heredity - 1 Jan 2012

Kang Guolian, Lin Dongyu, Hakonarson Hakon, Chen Jinbo

Abstract excerpt

Next-generation sequencing technology provides an unprecedented opportunity to identify rare susceptibility variants. It is not yet financially feasible to perform whole-genome sequencing on a large number of subjects, and a two-stage design has been advocated to be a practical option. In stage I, variants are discovered by sequencing the whole genomes of a small number of carefully selected individuals. In stage...

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PMID: 22678112
DOI: 10.1159/000337300
PMCID: PMC3558993

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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