Fastq2vcf: a concise and transparent pipeline for whole-exome sequencing data analyses

@inproceedings{Gao2015Fastq2vcfAC,
  title={Fastq2vcf: a concise and transparent pipeline for whole-exome sequencing data analyses},
  author={X. Raymond Gao and Jianpeng Xu and J. Starmer},
  booktitle={BMC Research Notes},
  year={2015}
}
Whole-exome sequencing (WES) is a popular next-generation sequencing technology used by numerous laboratories with various levels of statistical and analytical expertise. Centralized databases, such as the Sequence Read Archive and the European Nucleotide Archive, allow data to be reanalyzed by independent labs to confirm results and derive additional insights. Access to new and shared data highlights the necessity for software that both lowers the statistical and analytical expertise required… CONTINUE READING
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