FASTQuick: rapid and comprehensive quality assessment of raw sequence reads.
FASTQuick: rapid and comprehensive quality assessment of raw sequence reads.
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DOI：
10.1093/gigascience/giab004
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发表时间：
2021-01-29
期刊：
影响因子：
9.2
通讯作者：
Kang HM
中科院分区：
文献类型：
--
作者：
Zhang F;Kang HM
在超高通量规模上对测序的基因组进行快速和彻底的质量评估对于成功的大规模基因组研究至关重要。全面的质量评估通常需要全基因组比对，这需要大量的计算资源和周转时间。现有的工具要么由于完全比对而在计算上昂贵，要么由于跳过读段比对而缺乏必要的质量度量。我们开发了一套快速准确的方法，直接从原始序列读数的子集（来自全基因组或全外显子组测序）中产生全面的质量指标，而无需完全比对。我们的方法比现有的基于完全测序的方法提供了数量级更快的周转时间，同时提供了全面和复杂的质量指标，包括遗传祖先和交叉样本污染的估计。通过快速、全面地进行质量评估，我们的工具将帮助研究人员在分析的早期阶段以低计算成本真实的时间检测超高通量序列读数中的潜在问题，确保高质量的下游结果，并防止时间、金钱和宝贵标本的意外损失。
Rapid and thorough quality assessment of sequenced genomes on an ultra-high-throughput scale is crucial for successful large-scale genomic studies. Comprehensive quality assessment typically requires full genome alignment, which costs a substantial amount of computational resources and turnaround time. Existing tools are either computationally expensive owing to full alignment or lacking essential quality metrics by skipping read alignment. We developed a set of rapid and accurate methods to produce comprehensive quality metrics directly from a subset of raw sequence reads (from whole-genome or whole-exome sequencing) without full alignment. Our methods offer orders of magnitude faster turnaround time than existing full alignment–based methods while providing comprehensive and sophisticated quality metrics, including estimates of genetic ancestry and cross-sample contamination. By rapidly and comprehensively performing the quality assessment, our tool will help investigators detect potential issues in ultra-high-throughput sequence reads in real time within a low computational cost at the early stages of the analyses, ensuring high-quality downstream results and preventing unexpected loss in time, money, and invaluable specimens.
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影响因子：
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作者：
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通讯作者：
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