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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...

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Autores principales: Lin, Shu-Hong, Thakur, Rohit, Machiela, Mitchell J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
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.
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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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