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Reference-based phasing using the Haplotype Reference Consortium panel

Abstract:

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 extern...

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Publication status:
Published
Peer review status:
Peer reviewed

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Publisher copy:
10.1038/ng.3679

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Institution:
University of Oxford
Division:
MPLS
Department:
Statistics
Oxford college:
Corpus Christi College
Role:
Author
ORCID:
0000-0002-7999-1972
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Publisher:
Springer Nature Publisher's website
Journal:
Nature Genetics Journal website
Volume:
48
Issue:
11
Pages:
1443-1448
Publication date:
2016-10-03
Acceptance date:
2016-08-29
DOI:
EISSN:
1546-1718
ISSN:
1061-4036
Pmid:
27694958
Source identifiers:
709193
Language:
English
Keywords:
Pubs id:
pubs:709193
UUID:
uuid:d8840189-c889-413e-95fe-f9f84e267a96
Local pid:
pubs:709193
Deposit date:
2019-05-24

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