Imputation of exome sequence variants into population- based samples and blood-cell-trait-associated loci in African Americans: NHLBI GO Exome Sequencing Project.

doi:10.1016/j.ajhg.2012.08.031

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Article

Imputation of exome sequence variants into population- based samples and blood-cell-trait-associated loci in African Americans: NHLBI GO Exome Sequencing Project.

American journal of human genetics - 2 Nov 2012

Auer Paul L, Johnsen Jill M, Johnson Andrew D, Logsdon Benjamin A, Lange Leslie A, Nalls Michael A, Zhang Guosheng, Franceschini Nora, Fox Keolu, Lange Ethan M, Rich Stephen S, O'Donnell Christopher J, Jackson Rebecca D, Wallace Robert B, Chen Zhao, Graubert Timothy A, Wilson James G, Tang Hua, Lettre Guillaume, Reiner Alex P, Ganesh Santhi K, Li Yun

Abstract excerpt

Researchers have successfully applied exome sequencing to discover causal variants in selected individuals with familial, highly penetrant disorders. We demonstrate the utility of exome sequencing followed by imputation for discovering low-frequency variants associated with complex quantitative traits. We performed exome sequencing in a reference panel of 761 African Americans and then imputed newly discovered...

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PMID: 23103231
DOI: 10.1016/j.ajhg.2012.08.031
PMCID: PMC3487117

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