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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...

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Detalles Bibliográficos
Autores principales: Dolgalev, Igor, Sedlazeck, Fritz, Busby, Ben
Formato: Online Artículo Texto
Lenguaje:English
Publicado: F1000Research 2017
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.
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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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