Haplotype estimation for biobank scale datasets

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 datasets and results in switch error rates as low as ~0.3%. The method exhibits O(Nlog...

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Detalles Bibliográficos
Autores principales: O’Connell, Jared, Sharp, Kevin, Shrine, Nick, Wain, Louise, Hall, Ian, Tobin, Martin, Zagury, Jean-Francois, Delaneau, Olivier, Marchini, Jonathan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2016
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4926957/
https://www.ncbi.nlm.nih.gov/pubmed/27270105
http://dx.doi.org/10.1038/ng.3583
Descripción
Sumario: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 datasets and results in switch error rates as low as ~0.3%. The method exhibits O(NlogN) scaling in sample size (N), enabling fast and accurate phasing of even larger cohorts.

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