Abstract
BACKGROUND: 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. FINDINGS: 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. CONCLUSIONS: 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.