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...
Main Authors: | , , , , , , |
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Format: | Article |
Language: | English |
Published: |
BMC
2017-04-01
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Series: | Genome Medicine |
Subjects: | |
Online Access: | http://link.springer.com/article/10.1186/s13073-017-0425-1 |