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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...
Autores principales: | , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2019
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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 |
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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 |