Supporting data for "FASTQuick: Rapid and comprehensive quality assessment of raw sequence reads"

Rapid and thorough quality assessment of sequenced genomes in an ultra-high-throughput scale is crucial for successful large-scale genomic studies. Comprehensive quality assessment typically requires full genome alignment, which costs a significant amount of computational resources and turnaround time. Existing tools are either computational expensive due to full alignment or lacking essential quality metrics by skipping read alignment.<br>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. <br>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.

超高通量规模下对测序基因组开展快速且全面的质量评估，对于成功开展大规模基因组研究至关重要。全面的质量评估通常需要进行全基因组比对，这将耗费大量计算资源与周转时间。现有工具要么因采用全基因组比对而计算成本高昂，要么因跳过测序读段比对而缺失关键质量指标。
本研究团队开发了一套快速精准的分析方法，可无需进行全基因组比对，直接从全基因组测序（whole-genome sequencing）或全外显子组测序（whole-exome sequencing）的原始测序读段子集中生成全面的质量指标。相较于现有的基于全基因组比对的工具，本方法可将处理周转时间缩短数个数量级，同时可提供全面且精细的质量指标，包括遗传祖源估算与跨样本污染评估。
通过快速且全面地完成质量评估，本工具可帮助研究人员在分析早期以低计算成本实时检测超高通量测序读段中的潜在问题，保障后续分析结果的高质量，并避免在时间、资金与珍贵样本上遭受意外损失。