SNPhood: investigate, quantify and visualise the epigenomic neighbourhood of SNPs using NGS data.
Bioinformatics
; 32(15): 2359-60, 2016 08 01.
Article
en En
| MEDLINE
| ID: mdl-27153574
ABSTRACT
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.
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Genoma
/
Polimorfismo de Nucleótido Simple
/
Epigenómica
Límite:
Humans
Idioma:
En
Revista:
Bioinformatics
Asunto de la revista:
INFORMATICA MEDICA
Año:
2016
Tipo del documento:
Article
País de afiliación:
Alemania