Intersect-then-combine approach: improving the performance of somatic variant calling in whole exome...
Intersect-then-combine approach: improving the performance of somatic variant calling in whole exome sequencing data using multiple aligners and callers
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Publisher
England: BioMed Central
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Language
English
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Publisher
England: BioMed Central
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Bioinformatic analysis of genomic sequencing data to identify somatic mutations in cancer samples is far from achieving the required robustness and standardisation. In this study we generated a whole exome sequencing benchmark dataset using the platinum genome sample NA12878 and developed an intersect-then-combine (ITC) approach to increase the acc...
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Full title
Intersect-then-combine approach: improving the performance of somatic variant calling in whole exome sequencing data using multiple aligners and callers
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TN_cdi_doaj_primary_oai_doaj_org_article_7488b73db73f445ba7052efa8ade4e0d
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_7488b73db73f445ba7052efa8ade4e0d
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ISSN
1756-994X
E-ISSN
1756-994X
DOI
10.1186/s13073-017-0425-1
