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...

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Detalhes bibliográficos
Publicado no:Genome Med
Main Authors: Callari, Maurizio, Sammut, Stephen-John, De Mattos-Arruda, Leticia, Bruna, Alejandra, Rueda, Oscar M., Chin, Suet-Feung, Caldas, Carlos
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2017
Assuntos:
Method
Acesso em linha: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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