Article
Accuracy of haplotype estimation and whole genome imputation affects complex trait analyses in complex biobanks.
Communications biology - 26 Jan 2023
Appadurai Vivek, Bybjerg-Grauholm Jonas, Krebs Morten Dybdahl, Rosengren Anders, Buil Alfonso, Ingason Andrés, Mors Ole, Børglum Anders D, Hougaard David M, Nordentoft Merete, Mortensen Preben B, Delaneau Olivier, Werge Thomas, Schork Andrew J
Abstract excerpt
Sample recruitment for research consortia, biobanks, and personal genomics companies span years, necessitating genotyping in batches, using different technologies. As marker content on genotyping arrays varies, integrating such datasets is non-trivial and its impact on haplotype estimation (phasing) and whole genome imputation, necessary steps for complex trait analysis, remains under-evaluated. Using the iPSYCH...
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