Reference-based phasing using the Haplotype Reference Consortium panel

@inproceedings{Loh2016ReferencebasedPU,
  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},
  year={2016}
}
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
Recent Discussions
This paper has been referenced on Twitter 35 times over the past 90 days. VIEW TWEETS

From This Paper

Figures, tables, and topics from this paper.

Citations

Publications citing this paper.
Showing 1-10 of 66 extracted citations

References

Publications referenced by this paper.
Showing 1-10 of 31 references

Fast and accurate long-range phasing in a uk biobank cohort

  • Loh P-R, PF Palamara, AL Price
  • Nature Genetics
  • 2016

Similar Papers

Loading similar papers…