Richard Wilton1, Alexander S Szalay1,2

  • 1Department of Physics and Astronomy, Johns Hopkins University, Baltimore, MD 21218, United States.

概括

优化DNA序列变异调用需要仔细选择短读对齐器和变异调用器. 这项研究将BWA-MEM,Bowtie 2和Arioc与DeepVariant,FreeBayes和GATK HaplotypeCaller一起评估,以提高生殖系变异调用精度.