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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...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2016
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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. |
format | Online Article Text |
id | pubmed-4965630 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2016 |
publisher | Oxford University Press |
record_format | MEDLINE/PubMed |
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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