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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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Genome Med
Egile Nagusiak: Callari, Maurizio, Sammut, Stephen-John, De Mattos-Arruda, Leticia, Bruna, Alejandra, Rueda, Oscar M., Chin, Suet-Feung, Caldas, Carlos
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: BioMed Central 2017
Gaiak:
Sarrera elektronikoa: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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