Wingett Steven W, Andrews Simon
Bioinformatics, Babraham Institute, Cambridge, CB22 3AT, UK.
F1000Res. 2018 Aug 24;7:1338. doi: 10.12688/f1000research.15931.2. eCollection 2018.
DNA sequencing analysis typically involves mapping reads to just one reference genome. Mapping against multiple genomes is necessary, however, when the genome of origin requires confirmation. Mapping against multiple genomes is also advisable for detecting contamination or for identifying sample swaps which, if left undetected, may lead to incorrect experimental conclusions. Consequently, we present FastQ Screen, a tool to validate the origin of DNA samples by quantifying the proportion of reads that map to a panel of reference genomes. FastQ Screen is intended to be used routinely as a quality control measure and for analysing samples in which the origin of the DNA is uncertain or has multiple sources.
DNA测序分析通常只涉及将 reads 比对到一个参考基因组上。然而,当需要确认起源基因组时,与多个基因组进行比对是必要的。为了检测污染或识别样本交换(若未被检测到,可能会导致错误的实验结论),与多个基因组进行比对也是可取的。因此,我们开发了FastQ Screen,这是一种通过量化比对到一组参考基因组的 reads 比例来验证DNA样本起源的工具。FastQ Screen旨在作为一种质量控制措施常规使用,用于分析DNA起源不确定或有多个来源的样本。