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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...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
F1000 Research Limited
2018
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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 |
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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 |
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