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Omics-informed CNV calls reduce false-positive rates and improve power for CNV-trait associations

Lepamets, M; Auwerx, C; Noukas, M; Claringbould, A; Porcu, E; Kals, M; Jurgenson, T; Morris, AP; Vosa, U; Bochud, M; Stringhini, S; Wijmenga, C; Franke, L; Peterson, H; Vilo, J; Lepik, K; Magi, R; Kutalik, Z

Lepamets, M (通讯作者),Univ Tartu, Estonian Genome Ctr, Inst Genom, EE-51010 Tartu, Estonia.;Kutalik, Z (通讯作者),Univ Lausanne, Dept Computat Biol, CH-1015 Lausanne, Switzerland.;Kutalik, Z (通讯作者),Swiss Inst Bioinformat, CH-1015 Lausanne, Switzerland.;Kutalik, Z (通讯作者),Univ Lausanne, Ctr Primary Care & Publ Hlth Unisante, Dept Epidemiol & Hlth Syst, CH-1010 Lausanne, Switzerland.

HUMAN GENETICS AND GENOMICS ADVANCES, 2022; 3 (4):

Abstract

Copy-number variations (CNV) are believed to play an important role in a wide range of complex traits, but discovering such associations remains chall......

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