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Ultra-Fast Next Generation Human Genome Sequencing Data Processing Using DRAGEN<sup>TM</sup>Bio-IT Processor for Precision Medicine 被引量:3

Ultra-Fast Next Generation Human Genome Sequencing Data Processing Using DRAGEN<sup>TM</sup>Bio-IT Processor for Precision Medicine
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摘要 Slow speed of the Next-Generation sequencing data analysis, compared to the latest high throughput sequencers such as HiSeq X system, using the current industry standard genome analysis pipeline, has been the major factor of data backlog which limits the real-time use of genomic data for precision medicine. This study demonstrates the DRAGEN Bio-IT Processor as a potential candidate to remove the “Big Data Bottleneck”. DRAGENTM accomplished the variant calling, for ~40× coverage WGS data in as low as ~30 minutes using a single command, achieving the over 50-fold data analysis speed while maintaining the similar or better variant calling accuracy than the standard GATK Best Practices workflow. This systematic comparison provides the faster and efficient NGS data analysis alternative to NGS-based healthcare industries and research institutes to meet the requirement for precision medicine based healthcare. Slow speed of the Next-Generation sequencing data analysis, compared to the latest high throughput sequencers such as HiSeq X system, using the current industry standard genome analysis pipeline, has been the major factor of data backlog which limits the real-time use of genomic data for precision medicine. This study demonstrates the DRAGEN Bio-IT Processor as a potential candidate to remove the “Big Data Bottleneck”. DRAGENTM accomplished the variant calling, for ~40× coverage WGS data in as low as ~30 minutes using a single command, achieving the over 50-fold data analysis speed while maintaining the similar or better variant calling accuracy than the standard GATK Best Practices workflow. This systematic comparison provides the faster and efficient NGS data analysis alternative to NGS-based healthcare industries and research institutes to meet the requirement for precision medicine based healthcare.
出处 《Open Journal of Genetics》 2017年第1期9-19,共11页 遗传学期刊(英文)
关键词 NGS Data Analysis BWA-GATK DRAGEN Bio-IT PROCESSOR Genomics INDEL Mapping NGS Data Analysis BWA-GATK DRAGEN Bio-IT Processor Genomics INDEL Mapping
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