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Article

Effective discovery of rare variants by pooled target capture sequencing: A comparative analysis with individually indexed target capture sequencing.

Mutation research - 1 May 2018

Ryu Seungjin, Han Jeehae, Norden-Krichmar Trina M, Schork Nicholas J, Suh Yousin

Abstract excerpt

Identification of all genetic variants associated with complex traits is one of the most important goals in modern human genetics. Genome-wide association studies (GWAS) have been successfully applied to identify common variants, which thus far explain only small portion of heritability. Interests in rare variants have been increasingly growing as an answer for this missing heritability. While next-generation...

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PMID: 29677560
DOI: 10.1016/j.mrfmmm.2018.03.007
PMCID: PMC5962423

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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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