- 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...
Expand abstract - Publisher copy:
- 10.1038/ng.3036
-
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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
- Copyright date:
- 2014
Journal article
Integrating mapping-, assembly- and haplotype-based approaches for calling variants in clinical sequencing applications
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