Article
Impact of variant-level batch effects on identification of genetic risk factors in large sequencing studies.
PloS one - 1 Jan 2021
Wickland Daniel P, Ren Yingxue, Sinnwell Jason P, Reddy Joseph S, Pottier Cyril, Sarangi Vivekananda, Carrasquillo Minerva M, Ross Owen A, Younkin Steven G, Ertekin-Taner Nilüfer, Rademakers Rosa, Hudson Matthew E, Mainzer Liudmila Sergeevna, Biernacka Joanna M, Asmann Yan W
Abstract excerpt
Genetic studies have shifted to sequencing-based rare variants discovery after decades of success in identifying common disease variants by Genome-Wide Association Studies using Single Nucleotide Polymorphism chips. Sequencing-based studies require large sample sizes for statistical power and therefore often inadvertently introduce batch effects because samples are typically collected, processed, and sequenced at...
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