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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...

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Bibliografski detalji
Izdano u:Genome Med
Glavni autori: Callari, Maurizio, Sammut, Stephen-John, De Mattos-Arruda, Leticia, Bruna, Alejandra, Rueda, Oscar M., Chin, Suet-Feung, Caldas, Carlos
Format: Artigo
Jezik:Inglês
Izdano: BioMed Central 2017
Teme:
Online pristup: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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