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SNPhood: investigate, quantify and visualise the epigenomic neighbourhood of SNPs using NGS data

Motivation: The vast majority of the many thousands of disease-associated single nucleotide polymorphisms (SNPs) lie in the non-coding part of the genome. They are likely to affect regulatory elements, such as enhancers and promoters, rather than the function of a protein. To understand the molecula...

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Detalles Bibliográficos
Autores principales: Arnold, Christian, Bhat, Pooja, Zaugg, Judith B.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4965630/
https://www.ncbi.nlm.nih.gov/pubmed/27153574
http://dx.doi.org/10.1093/bioinformatics/btw127
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author Arnold, Christian
Bhat, Pooja
Zaugg, Judith B.
author_facet Arnold, Christian
Bhat, Pooja
Zaugg, Judith B.
author_sort Arnold, Christian
collection PubMed
description Motivation: The vast majority of the many thousands of disease-associated single nucleotide polymorphisms (SNPs) lie in the non-coding part of the genome. They are likely to affect regulatory elements, such as enhancers and promoters, rather than the function of a protein. To understand the molecular mechanisms underlying genetic diseases, it is therefore increasingly important to study the effect of a SNP on nearby molecular traits such as chromatin or transcription factor binding. Results: We developed SNPhood, a user-friendly Bioconductor R package to investigate, quantify and visualise the local epigenetic neighbourhood of a set of SNPs in terms of chromatin marks or TF binding sites using data from NGS experiments. Availability and implementation: SNPhood is publicly available and maintained as an R Bioconductor package at http://bioconductor.org/packages/SNPhood/. Contact: judith.zaugg@embl.de Supplementary information: Supplementary data are available at Bioinformatics online.
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spelling pubmed-49656302016-08-01 SNPhood: investigate, quantify and visualise the epigenomic neighbourhood of SNPs using NGS data Arnold, Christian Bhat, Pooja Zaugg, Judith B. Bioinformatics Applications Notes Motivation: The vast majority of the many thousands of disease-associated single nucleotide polymorphisms (SNPs) lie in the non-coding part of the genome. They are likely to affect regulatory elements, such as enhancers and promoters, rather than the function of a protein. To understand the molecular mechanisms underlying genetic diseases, it is therefore increasingly important to study the effect of a SNP on nearby molecular traits such as chromatin or transcription factor binding. Results: We developed SNPhood, a user-friendly Bioconductor R package to investigate, quantify and visualise the local epigenetic neighbourhood of a set of SNPs in terms of chromatin marks or TF binding sites using data from NGS experiments. Availability and implementation: SNPhood is publicly available and maintained as an R Bioconductor package at http://bioconductor.org/packages/SNPhood/. Contact: judith.zaugg@embl.de Supplementary information: Supplementary data are available at Bioinformatics online. Oxford University Press 2016-08-01 2016-03-26 /pmc/articles/PMC4965630/ /pubmed/27153574 http://dx.doi.org/10.1093/bioinformatics/btw127 Text en © The Author 2016. Published by Oxford University Press. http://creativecommons.org/licenses/by/4.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://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 Notes
Arnold, Christian
Bhat, Pooja
Zaugg, Judith B.
SNPhood: investigate, quantify and visualise the epigenomic neighbourhood of SNPs using NGS data
title SNPhood: investigate, quantify and visualise the epigenomic neighbourhood of SNPs using NGS data
title_full SNPhood: investigate, quantify and visualise the epigenomic neighbourhood of SNPs using NGS data
title_fullStr SNPhood: investigate, quantify and visualise the epigenomic neighbourhood of SNPs using NGS data
title_full_unstemmed SNPhood: investigate, quantify and visualise the epigenomic neighbourhood of SNPs using NGS data
title_short SNPhood: investigate, quantify and visualise the epigenomic neighbourhood of SNPs using NGS data
title_sort snphood: investigate, quantify and visualise the epigenomic neighbourhood of snps using ngs data
topic Applications Notes
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4965630/
https://www.ncbi.nlm.nih.gov/pubmed/27153574
http://dx.doi.org/10.1093/bioinformatics/btw127
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