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Journal article

Genotype calling and phasing using next-generation sequencing reads and a haplotype scaffold.

Abstract:

MOTIVATION: Given the current costs of next-generation sequencing, large studies carry out low-coverage sequencing followed by application of methods that leverage linkage disequilibrium to infer genotypes. We propose a novel method that assumes study samples are sequenced at low coverage and genotyped on a genome-wide microarray, as in the 1000 Genomes Project (1KGP). We assume polymorphic sites have been detected from the sequencing data and that genotype likelihoods are available at these...

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Publication status:
Published

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Institution:
University of Oxford
Department:
Oxford, MPLS, Statistics, Clinical Medicine
Role:
Author
Journal:
Bioinformatics (Oxford, England)
Volume:
29
Issue:
1
Pages:
84-91
Publication date:
2013-01-05
DOI:
EISSN:
1367-4811
ISSN:
1367-4803
URN:
uuid:1c74e5c0-c528-4381-8437-37cc42cdd3be
Source identifiers:
356207
Local pid:
pubs:356207

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