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

Abstract 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 a...

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Autors principals: Maurizio Callari, Stephen-John Sammut, Leticia De Mattos-Arruda, Alejandra Bruna, Oscar M. Rueda, Suet-Feung Chin, Carlos Caldas
Format: Artigo
Idioma:Inglês
Publicat: BMC 2017-04-01
Col·lecció:Genome Medicine
Matèries:
Somatic mutation
Variant calling
Whole exome sequencing
NA12878
Platinum genome
Mutect2
Accés en línia:http://link.springer.com/article/10.1186/s13073-017-0425-1
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