Article
Haplotype estimation for biobank-scale data sets.
Nature genetics - 1 Jul 2016
O'Connell Jared, Sharp Kevin, Shrine Nick, Wain Louise, Hall Ian, Tobin Martin, Zagury Jean-Francois, Delaneau Olivier, Marchini Jonathan
Abstract excerpt
The UK Biobank (UKB) has recently released genotypes on 152,328 individuals together with extensive phenotypic and lifestyle information. We present a new phasing method, SHAPEIT3, that can handle such biobank-scale data sets and results in switch error rates as low as ∼0.3%. The method exhibits O(NlogN) scaling with sample size N, enabling fast and accurate phasing of even larger cohorts.
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