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GSEL: a fast, flexible python package for detecting signatures of diverse evolutionary forces on genomic regions
SUMMARY: GSEL is a computational framework for calculating the enrichment of signatures of diverse evolutionary forces in a set of genomic regions. GSEL can flexibly integrate any sequence-based evolutionary metric and analyze sets of human genomic regions identified by genome-wide assays (e.g. GWAS...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9879724/ https://www.ncbi.nlm.nih.gov/pubmed/36655767 http://dx.doi.org/10.1093/bioinformatics/btad037 |
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author | Abraham, Abin Labella, Abigail L Benton, Mary Lauren Rokas, Antonis Capra, John A |
author_facet | Abraham, Abin Labella, Abigail L Benton, Mary Lauren Rokas, Antonis Capra, John A |
author_sort | Abraham, Abin |
collection | PubMed |
description | SUMMARY: GSEL is a computational framework for calculating the enrichment of signatures of diverse evolutionary forces in a set of genomic regions. GSEL can flexibly integrate any sequence-based evolutionary metric and analyze sets of human genomic regions identified by genome-wide assays (e.g. GWAS, eQTL, *-seq). The core of GSEL’s approach is the generation of empirical null distributions tailored to the allele frequency and linkage disequilibrium structure of the regions of interest. We illustrate the application of GSEL to variants identified from a GWAS of body mass index, a highly polygenic trait. AVAILABILITY AND IMPLEMENTATION: GSEL is implemented as a fast, flexible and user-friendly python package. It is available with demonstration data at https://github.com/abraham-abin13/gsel_vec. SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online. |
format | Online Article Text |
id | pubmed-9879724 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | Oxford University Press |
record_format | MEDLINE/PubMed |
spelling | pubmed-98797242023-01-31 GSEL: a fast, flexible python package for detecting signatures of diverse evolutionary forces on genomic regions Abraham, Abin Labella, Abigail L Benton, Mary Lauren Rokas, Antonis Capra, John A Bioinformatics Applications Note SUMMARY: GSEL is a computational framework for calculating the enrichment of signatures of diverse evolutionary forces in a set of genomic regions. GSEL can flexibly integrate any sequence-based evolutionary metric and analyze sets of human genomic regions identified by genome-wide assays (e.g. GWAS, eQTL, *-seq). The core of GSEL’s approach is the generation of empirical null distributions tailored to the allele frequency and linkage disequilibrium structure of the regions of interest. We illustrate the application of GSEL to variants identified from a GWAS of body mass index, a highly polygenic trait. AVAILABILITY AND IMPLEMENTATION: GSEL is implemented as a fast, flexible and user-friendly python package. It is available with demonstration data at https://github.com/abraham-abin13/gsel_vec. SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online. Oxford University Press 2023-01-19 /pmc/articles/PMC9879724/ /pubmed/36655767 http://dx.doi.org/10.1093/bioinformatics/btad037 Text en © The Author(s) 2023. Published by Oxford University Press. https://creativecommons.org/licenses/by/4.0/This is an Open Access article distributed under the terms of the Creative Commons Attribution License (https://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Applications Note Abraham, Abin Labella, Abigail L Benton, Mary Lauren Rokas, Antonis Capra, John A GSEL: a fast, flexible python package for detecting signatures of diverse evolutionary forces on genomic regions |
title | GSEL: a fast, flexible python package for detecting signatures of diverse evolutionary forces on genomic regions |
title_full | GSEL: a fast, flexible python package for detecting signatures of diverse evolutionary forces on genomic regions |
title_fullStr | GSEL: a fast, flexible python package for detecting signatures of diverse evolutionary forces on genomic regions |
title_full_unstemmed | GSEL: a fast, flexible python package for detecting signatures of diverse evolutionary forces on genomic regions |
title_short | GSEL: a fast, flexible python package for detecting signatures of diverse evolutionary forces on genomic regions |
title_sort | gsel: a fast, flexible python package for detecting signatures of diverse evolutionary forces on genomic regions |
topic | Applications Note |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9879724/ https://www.ncbi.nlm.nih.gov/pubmed/36655767 http://dx.doi.org/10.1093/bioinformatics/btad037 |
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