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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...

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Autores principales: Abraham, Abin, Labella, Abigail L, Benton, Mary Lauren, Rokas, Antonis, Capra, John A
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2023
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.
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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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