Article
Identification of missing variants by combining multiple analytic pipelines.
BMC bioinformatics - 16 Apr 2018
Ren Yingxue, Reddy Joseph S, Pottier Cyril, Sarangi Vivekananda, Tian Shulan, Sinnwell Jason P, McDonnell Shannon K, Biernacka Joanna M, Carrasquillo Minerva M, Ross Owen A, Ertekin-Taner Nilüfer, Rademakers Rosa, Hudson Matthew, Mainzer Liudmila Sergeevna, Asmann Yan W
Abstract excerpt
BACKGROUND: After decades of identifying risk factors using array-based genome-wide association studies (GWAS), genetic research of complex diseases has shifted to sequencing-based rare variants discovery. This requires large sample sizes for statistical power and has brought up questions about whether the current variant calling practices are adequate for large cohorts. It is well-known that there are...
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