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DangerTrack: A scoring system to detect difficult-to-assess regions
Over recent years, multiple groups have shown that a large number of structural variants, repeats, or problems with the underlying genome assembly have dramatic effects on the mapping, calling, and overall reliability of single nucleotide polymorphism calls. This project endeavored to develop an eas...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
F1000Research
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5405793/ https://www.ncbi.nlm.nih.gov/pubmed/28503299 http://dx.doi.org/10.12688/f1000research.11254.1 |
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author | Dolgalev, Igor Sedlazeck, Fritz Busby, Ben |
author_facet | Dolgalev, Igor Sedlazeck, Fritz Busby, Ben |
author_sort | Dolgalev, Igor |
collection | PubMed |
description | Over recent years, multiple groups have shown that a large number of structural variants, repeats, or problems with the underlying genome assembly have dramatic effects on the mapping, calling, and overall reliability of single nucleotide polymorphism calls. This project endeavored to develop an easy-to-use track for looking at structural variant and repeat regions. This track, DangerTrack, can be displayed alongside the existing Genome Reference Consortium assembly tracks to warn clinicians and biologists when variants of interest may be incorrectly called, of dubious quality, or on an insertion or copy number expansion. While mapping and variant calling can be automated, it is our opinion that when these regions are of interest to a particular clinical or research group, they warrant a careful examination, potentially involving localized reassembly. DangerTrack is available at https://github.com/DCGenomics/DangerTrack. |
format | Online Article Text |
id | pubmed-5405793 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2017 |
publisher | F1000Research |
record_format | MEDLINE/PubMed |
spelling | pubmed-54057932017-05-12 DangerTrack: A scoring system to detect difficult-to-assess regions Dolgalev, Igor Sedlazeck, Fritz Busby, Ben F1000Res Software Tool Article Over recent years, multiple groups have shown that a large number of structural variants, repeats, or problems with the underlying genome assembly have dramatic effects on the mapping, calling, and overall reliability of single nucleotide polymorphism calls. This project endeavored to develop an easy-to-use track for looking at structural variant and repeat regions. This track, DangerTrack, can be displayed alongside the existing Genome Reference Consortium assembly tracks to warn clinicians and biologists when variants of interest may be incorrectly called, of dubious quality, or on an insertion or copy number expansion. While mapping and variant calling can be automated, it is our opinion that when these regions are of interest to a particular clinical or research group, they warrant a careful examination, potentially involving localized reassembly. DangerTrack is available at https://github.com/DCGenomics/DangerTrack. F1000Research 2017-04-07 /pmc/articles/PMC5405793/ /pubmed/28503299 http://dx.doi.org/10.12688/f1000research.11254.1 Text en Copyright: © 2017 Dolgalev I et al. http://creativecommons.org/licenses/by/4.0/ This is an open access article distributed under the terms of the Creative Commons Attribution Licence, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. The author(s) is/are employees of the US Government and therefore domestic copyright protection in USA does not apply to this work. The work may be protected under the copyright laws of other jurisdictions when used in those jurisdictions. |
spellingShingle | Software Tool Article Dolgalev, Igor Sedlazeck, Fritz Busby, Ben DangerTrack: A scoring system to detect difficult-to-assess regions |
title | DangerTrack: A scoring system to detect difficult-to-assess regions |
title_full | DangerTrack: A scoring system to detect difficult-to-assess regions |
title_fullStr | DangerTrack: A scoring system to detect difficult-to-assess regions |
title_full_unstemmed | DangerTrack: A scoring system to detect difficult-to-assess regions |
title_short | DangerTrack: A scoring system to detect difficult-to-assess regions |
title_sort | dangertrack: a scoring system to detect difficult-to-assess regions |
topic | Software Tool Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5405793/ https://www.ncbi.nlm.nih.gov/pubmed/28503299 http://dx.doi.org/10.12688/f1000research.11254.1 |
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