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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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書目詳細資料
發表在:Genome Med
Main Authors: Callari, Maurizio, Sammut, Stephen-John, De Mattos-Arruda, Leticia, Bruna, Alejandra, Rueda, Oscar M., Chin, Suet-Feung, Caldas, Carlos
格式: Artigo
語言:Inglês
出版: BioMed Central 2017
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在線閱讀: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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