Cargando…

segment_liftover : a Python tool to convert segments between genome assemblies

The process of assembling a species’ reference genome may be performed in a number of iterations, with subsequent genome assemblies differing in the coordinates of mapped elements. The conversion of genome coordinates between different assemblies is required for many integrative and comparative stud...

Descripción completa

Detalles Bibliográficos
Autores principales: Gao, Bo, Huang, Qingyao, Baudis, Michael
Formato: Online Artículo Texto
Lenguaje:English
Publicado: F1000 Research Limited 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5998006/
https://www.ncbi.nlm.nih.gov/pubmed/29946440
http://dx.doi.org/10.12688/f1000research.14148.2
_version_ 1783331164568682496
author Gao, Bo
Huang, Qingyao
Baudis, Michael
author_facet Gao, Bo
Huang, Qingyao
Baudis, Michael
author_sort Gao, Bo
collection PubMed
description The process of assembling a species’ reference genome may be performed in a number of iterations, with subsequent genome assemblies differing in the coordinates of mapped elements. The conversion of genome coordinates between different assemblies is required for many integrative and comparative studies. While currently a number of bioinformatics tools are available to accomplish this task, most of them are tailored towards the conversion of single genome coordinates. When converting the boundary positions of segments spanning larger genome regions, segments may be mapped into smaller sub-segments if the original segment’s continuity is disrupted in the target assembly. Such a conversion may lead to a relevant degree of data loss in some circumstances such as copy number variation (CNV) analysis, where the quantitative representation of a genomic region takes precedence over base-specific accuracy. segment_liftover aims at continuity-preserving remapping of genome segments between assemblies and provides features such as approximate locus conversion, automated batch processing and comprehensive logging to facilitate processing of datasets containing large numbers of structural genome variation data.
format Online
Article
Text
id pubmed-5998006
institution National Center for Biotechnology Information
language English
publishDate 2018
publisher F1000 Research Limited
record_format MEDLINE/PubMed
spelling pubmed-59980062018-06-25 segment_liftover : a Python tool to convert segments between genome assemblies Gao, Bo Huang, Qingyao Baudis, Michael F1000Res Software Tool Article The process of assembling a species’ reference genome may be performed in a number of iterations, with subsequent genome assemblies differing in the coordinates of mapped elements. The conversion of genome coordinates between different assemblies is required for many integrative and comparative studies. While currently a number of bioinformatics tools are available to accomplish this task, most of them are tailored towards the conversion of single genome coordinates. When converting the boundary positions of segments spanning larger genome regions, segments may be mapped into smaller sub-segments if the original segment’s continuity is disrupted in the target assembly. Such a conversion may lead to a relevant degree of data loss in some circumstances such as copy number variation (CNV) analysis, where the quantitative representation of a genomic region takes precedence over base-specific accuracy. segment_liftover aims at continuity-preserving remapping of genome segments between assemblies and provides features such as approximate locus conversion, automated batch processing and comprehensive logging to facilitate processing of datasets containing large numbers of structural genome variation data. F1000 Research Limited 2018-06-08 /pmc/articles/PMC5998006/ /pubmed/29946440 http://dx.doi.org/10.12688/f1000research.14148.2 Text en Copyright: © 2018 Gao B 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.
spellingShingle Software Tool Article
Gao, Bo
Huang, Qingyao
Baudis, Michael
segment_liftover : a Python tool to convert segments between genome assemblies
title segment_liftover : a Python tool to convert segments between genome assemblies
title_full segment_liftover : a Python tool to convert segments between genome assemblies
title_fullStr segment_liftover : a Python tool to convert segments between genome assemblies
title_full_unstemmed segment_liftover : a Python tool to convert segments between genome assemblies
title_short segment_liftover : a Python tool to convert segments between genome assemblies
title_sort segment_liftover : a python tool to convert segments between genome assemblies
topic Software Tool Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5998006/
https://www.ncbi.nlm.nih.gov/pubmed/29946440
http://dx.doi.org/10.12688/f1000research.14148.2
work_keys_str_mv AT gaobo segmentliftoverapythontooltoconvertsegmentsbetweengenomeassemblies
AT huangqingyao segmentliftoverapythontooltoconvertsegmentsbetweengenomeassemblies
AT baudismichael segmentliftoverapythontooltoconvertsegmentsbetweengenomeassemblies