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Integrating mapping-, assembly- and haplotype-based approaches for calling variants in clinical sequencing applications

Abstract:

High-throughput DNA sequencing technology has transformed genetic research and is starting to make an impact on clinical practice. However, analyzing high-throughput sequencing data remains challenging, particularly in clinical settings where accuracy and turnaround times are critical. We present a new approach to this problem, implemented in a software package called Platypus. Platypus achieves high sensitivity and specificity for SNPs, indels and complex polymorphisms by using local de novo...

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Publisher copy:
10.1038/ng.3036

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Institution:
University of Oxford
Department:
Oxford, MSD, Clinical Medicine
Role:
Author
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Publisher:
Nature Publishing Group
Journal:
Nature Genetics
Volume:
46
Issue:
8
Pages:
912-918
Publication date:
2014-01-01
DOI:
EISSN:
1546-1718
ISSN:
1061-4036
URN:
uuid:04ac0249-b692-437a-bf1b-45a317ec8459
Source identifiers:
480599
Local pid:
pubs:480599
Language:
English

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