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Intersect-then-combine approach: improving the performance of somatic variant calling in whole exome sequencing data using multiple aligners and callers

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 interse...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
में प्रकाशित:Genome Med
मुख्य लेखकों: Callari, Maurizio, Sammut, Stephen-John, De Mattos-Arruda, Leticia, Bruna, Alejandra, Rueda, Oscar M., Chin, Suet-Feung, Caldas, Carlos
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: BioMed Central 2017
विषय:
ऑनलाइन पहुंच:https://ncbi.nlm.nih.gov/pmc/articles/PMC5394620/
https://ncbi.nlm.nih.gov/pubmed/28420412
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13073-017-0425-1
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