Cargando…

Referee: Reference Assembly Quality Scores

Genome assemblies from next-generation sequencing technologies are now an integral part of biological research, but many sequencing and assembly processes are still error-prone. Unfortunately, these errors can propagate to downstream analyses and wreak havoc on results and conclusions. Although such...

Descripción completa

Detalles Bibliográficos
Autores principales: Thomas, Gregg W C, Hahn, Matthew W
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6535810/
https://www.ncbi.nlm.nih.gov/pubmed/31028392
http://dx.doi.org/10.1093/gbe/evz088
_version_ 1783421637833523200
author Thomas, Gregg W C
Hahn, Matthew W
author_facet Thomas, Gregg W C
Hahn, Matthew W
author_sort Thomas, Gregg W C
collection PubMed
description Genome assemblies from next-generation sequencing technologies are now an integral part of biological research, but many sequencing and assembly processes are still error-prone. Unfortunately, these errors can propagate to downstream analyses and wreak havoc on results and conclusions. Although such errors are recognized when dealing with diploid genotype data, modern reference assemblies (which are represented as haploid sequences) lack any type of succinct quality assessment for every position. Here we present Referee, a program that uses diploid genotype quality information in order to annotate a haploid assembly with a quality score for every position. Referee aims to provide an assembly with concise quality information on a Phred-like scale in FASTQ format for easy filtering of low-quality sites. Referee also provides output of quality scores in BED format that can be easily visualized as tracks on most genome browsers. Referee is freely available at https://gwct.github.io/referee/.
format Online
Article
Text
id pubmed-6535810
institution National Center for Biotechnology Information
language English
publishDate 2019
publisher Oxford University Press
record_format MEDLINE/PubMed
spelling pubmed-65358102019-05-30 Referee: Reference Assembly Quality Scores Thomas, Gregg W C Hahn, Matthew W Genome Biol Evol Gen Res Genome assemblies from next-generation sequencing technologies are now an integral part of biological research, but many sequencing and assembly processes are still error-prone. Unfortunately, these errors can propagate to downstream analyses and wreak havoc on results and conclusions. Although such errors are recognized when dealing with diploid genotype data, modern reference assemblies (which are represented as haploid sequences) lack any type of succinct quality assessment for every position. Here we present Referee, a program that uses diploid genotype quality information in order to annotate a haploid assembly with a quality score for every position. Referee aims to provide an assembly with concise quality information on a Phred-like scale in FASTQ format for easy filtering of low-quality sites. Referee also provides output of quality scores in BED format that can be easily visualized as tracks on most genome browsers. Referee is freely available at https://gwct.github.io/referee/. Oxford University Press 2019-04-26 /pmc/articles/PMC6535810/ /pubmed/31028392 http://dx.doi.org/10.1093/gbe/evz088 Text en © The Author(s) 2019. Published by Oxford University Press on behalf of the Society for Molecular Biology and Evolution. http://creativecommons.org/licenses/by-nc/4.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0/), which permits non-commercial re-use, distribution, and reproduction in any medium, provided the original work is properly cited. For commercial re-use, please contact journals.permissions@oup.com
spellingShingle Gen Res
Thomas, Gregg W C
Hahn, Matthew W
Referee: Reference Assembly Quality Scores
title Referee: Reference Assembly Quality Scores
title_full Referee: Reference Assembly Quality Scores
title_fullStr Referee: Reference Assembly Quality Scores
title_full_unstemmed Referee: Reference Assembly Quality Scores
title_short Referee: Reference Assembly Quality Scores
title_sort referee: reference assembly quality scores
topic Gen Res
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6535810/
https://www.ncbi.nlm.nih.gov/pubmed/31028392
http://dx.doi.org/10.1093/gbe/evz088
work_keys_str_mv AT thomasgreggwc refereereferenceassemblyqualityscores
AT hahnmattheww refereereferenceassemblyqualityscores