FastQ Screen: A tool for multi-genome mapping and quality control

F1000Research - Tập 7 - Trang 1338
Steven Wingett1, Simon Andrews1
1Bioinformatics, Babraham Institute, Cambridge, CB22 3AT

Tóm tắt

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.

Từ khóa


Tài liệu tham khảo

B Langmead, 2009, Ultrafast and memory-efficient alignment of short DNA sequences to the human genome., Genome Biol., 10, R25, 10.1186/gb-2009-10-3-r25

B Langmead, 2012, Fast gapped-read alignment with Bowtie 2., Nat Methods., 9, 357-359, 10.1038/nmeth.1923

H Li, 2009, Fast and accurate short read alignment with Burrows-Wheeler transform., Bioinformatics., 25, 1754-1760, 10.1093/bioinformatics/btp324

E Woodham, 2017, Coordination by Cdc42 of Actin, Contractility, and Adhesion for Melanoblast Movement in Mouse Skin., Curr Biol., 27, 624-637, 10.1016/j.cub.2017.01.033

F Krueger, 2011, Bismark: a flexible aligner and methylation caller for Bisulfite-Seq applications., Bioinformatics., 27, 1571-1572, 10.1093/bioinformatics/btr167

J Hadfield, 2014, Multi-genome alignment for quality control and contamination screening of next-generation sequencing data., Front Genet., 5, 31, 10.3389/fgene.2014.00031

N O'Sullivan, 2016, A whole mitochondria analysis of the Tyrolean Iceman's leather provides insights into the animal sources of Copper Age clothing., Sci Rep., 6, 10.1038/srep31279

S Fiddyment, 2015, Animal origin of 13th-century uterine vellum revealed using noninvasive peptide fingerprinting., Proc Natl Acad Sci U S A., 112, 15066-15071, 10.1073/pnas.1512264112

G Rose, 2015, Challenges of the Unknown: Clinical Application of Microbial Metagenomics., Int J Genomics., 2015, 10.1155/2015/292950

S Perrin, 2017, Aozan: an automated post-sequencing data-processing pipeline., Bioinformatics., 33, 2212-2213, 10.1093/bioinformatics/btx154

P Ewels, 2016, MultiQC: summarize analysis results for multiple tools and samples in a single report., Bioinformatics., 32, 3047-3048, 10.1093/bioinformatics/btw354

S Wingett, 2018, StevenWingett/FastQ-Screen: Release v0.12.1 especially for Zenodo (Version 0.12.1.zenodo)., Zenodo.