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LDexpress: an online tool for integrating population-specific linkage disequilibrium patterns with tissue-specific expression data
Genome-wide association studies have identified thousands of genetic susceptibility loci associated with cancer as well as other traits and diseases. Mapping germline variation in identified genetic susceptibility regions to alterations in nearby gene expression nominates candidate genes potentially...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8686638/ https://www.ncbi.nlm.nih.gov/pubmed/34930111 http://dx.doi.org/10.1186/s12859-021-04531-8 |
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author | Lin, Shu-Hong Thakur, Rohit Machiela, Mitchell J. |
author_facet | Lin, Shu-Hong Thakur, Rohit Machiela, Mitchell J. |
author_sort | Lin, Shu-Hong |
collection | PubMed |
description | Genome-wide association studies have identified thousands of genetic susceptibility loci associated with cancer as well as other traits and diseases. Mapping germline variation in identified genetic susceptibility regions to alterations in nearby gene expression nominates candidate genes potentially related to disease risk for further functional investigation. We developed LDexpress as an online resource that integrates population-specific linkage disequilibrium data from the 1000 Genomes (1000G) project and tissue-specific expression data from the Genotype-Tissue Expression project to better study regional germline variation impacting gene expression. LDexpress is a publicly available web tool designed to be easy to use, flexible to conduct a wide range of variant queries, and quick to efficiently investigate dozens of query variants across multiple tissue types. We demonstrate the utility of LDexpress using example genomic queries and anticipate this tool will accelerate understanding of disease etiology by uncovering associations of regional germline variation to nearby gene expression. |
format | Online Article Text |
id | pubmed-8686638 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-86866382021-12-21 LDexpress: an online tool for integrating population-specific linkage disequilibrium patterns with tissue-specific expression data Lin, Shu-Hong Thakur, Rohit Machiela, Mitchell J. BMC Bioinformatics Database Genome-wide association studies have identified thousands of genetic susceptibility loci associated with cancer as well as other traits and diseases. Mapping germline variation in identified genetic susceptibility regions to alterations in nearby gene expression nominates candidate genes potentially related to disease risk for further functional investigation. We developed LDexpress as an online resource that integrates population-specific linkage disequilibrium data from the 1000 Genomes (1000G) project and tissue-specific expression data from the Genotype-Tissue Expression project to better study regional germline variation impacting gene expression. LDexpress is a publicly available web tool designed to be easy to use, flexible to conduct a wide range of variant queries, and quick to efficiently investigate dozens of query variants across multiple tissue types. We demonstrate the utility of LDexpress using example genomic queries and anticipate this tool will accelerate understanding of disease etiology by uncovering associations of regional germline variation to nearby gene expression. BioMed Central 2021-12-20 /pmc/articles/PMC8686638/ /pubmed/34930111 http://dx.doi.org/10.1186/s12859-021-04531-8 Text en © The Author(s) 2021 https://creativecommons.org/licenses/by/4.0/Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/ (https://creativecommons.org/publicdomain/zero/1.0/) ) applies to the data made available in this article, unless otherwise stated in a credit line to the data. |
spellingShingle | Database Lin, Shu-Hong Thakur, Rohit Machiela, Mitchell J. LDexpress: an online tool for integrating population-specific linkage disequilibrium patterns with tissue-specific expression data |
title | LDexpress: an online tool for integrating population-specific linkage disequilibrium patterns with tissue-specific expression data |
title_full | LDexpress: an online tool for integrating population-specific linkage disequilibrium patterns with tissue-specific expression data |
title_fullStr | LDexpress: an online tool for integrating population-specific linkage disequilibrium patterns with tissue-specific expression data |
title_full_unstemmed | LDexpress: an online tool for integrating population-specific linkage disequilibrium patterns with tissue-specific expression data |
title_short | LDexpress: an online tool for integrating population-specific linkage disequilibrium patterns with tissue-specific expression data |
title_sort | ldexpress: an online tool for integrating population-specific linkage disequilibrium patterns with tissue-specific expression data |
topic | Database |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8686638/ https://www.ncbi.nlm.nih.gov/pubmed/34930111 http://dx.doi.org/10.1186/s12859-021-04531-8 |
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