DeepVariant-on-Spark: Small-Scale Genome Analysis Using a Cloud-Based Computing Framework

Autor: Hou-Hsien Lin, Po-Jung Huang, Ming-Tai Chang, Jui-Huan Chang, Chi-Ching Lee, Cheng-Hsun Chiu, Yu-Xuan Li, Sid Weng, Petrus Tang, Yun-Lung Li, Wei-Hung Cheng, Chung-Tsai Su

Publikováno v: Computational and Mathematical Methods in Medicine, Vol 2020 (2020)
Computational and Mathematical Methods in Medicine

Although sequencing a human genome has become affordable, identifying genetic variants from whole-genome sequence data is still a hurdle for researchers without adequate computing equipment or bioinformatics support. GATK is a gold standard method fo

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