Reference-based phasing using the Haplotype Reference Consortium panel

  title={Reference-based phasing using the Haplotype Reference Consortium panel},
  author={Po-Ru Loh and Petr Danecek and Pier Francesco Palamara and Christian Fuchsberger and Yakir A Reshef and Hilary K Finucane and Sebastian Sch{\"o}nherr and Lukas Forer and Shane A. McCarthy and Gonçalo R. Abecasis and Richard Durbin and Alkes L Price},
  booktitle={Nature Genetics},
Haplotype phasing is a fundamental problem in medical and population genetics. Phasing is generally performed via statistical phasing in a genotyped cohort, an approach that can yield high accuracy in very large cohorts but attains lower accuracy in smaller cohorts. Here we instead explore the paradigm of reference-based phasing. We introduce a new phasing algorithm, Eagle2, that attains high accuracy across a broad range of cohort sizes by efficiently leveraging information from large external… CONTINUE READING
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Fast and accurate long-range phasing in a uk biobank cohort

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