| Title |
SNPnexus: assessing the functional relevance of genetic variation to facilitate the promise of precision medicine
|
|---|---|
| Published in |
Nucleic Acids Research, May 2018
|
| DOI | 10.1093/nar/gky399 |
| Pubmed ID | |
| Authors |
Abu Z Dayem Ullah, Jorge Oscanoa, Jun Wang, Ai Nagano, Nicholas R Lemoine, Claude Chelala |
| Abstract |
Broader functional annotation of genetic variation is a valuable means for prioritising phenotypically-important variants in further disease studies and large-scale genotyping projects. We developed SNPnexus to meet this need by assessing the potential significance of known and novel SNPs on the major transcriptome, proteome, regulatory and structural variation models. Since its previous release in 2012, we have made significant improvements to the annotation categories and updated the query and data viewing systems. The most notable changes include broader functional annotation of noncoding variants and expanding annotations to the most recent human genome assembly GRCh38/hg38. SNPnexus has now integrated rich resources from ENCODE and Roadmap Epigenomics Consortium to map and annotate the noncoding variants onto different classes of regulatory regions and noncoding RNAs as well as providing their predicted functional impact from eight popular non-coding variant scoring algorithms and computational methods. A novel functionality offered now is the support for neo-epitope predictions from leading tools to facilitate its use in immunotherapeutic applications. These updates to SNPnexus are in preparation for its future expansion towards a fully comprehensive computational workflow for disease-associated variant prioritization from sequencing data, placing its users at the forefront of translational research. SNPnexus is freely available at http://www.snp-nexus.org. |
X Demographics
The data shown below were collected from the profiles of 3 X users who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| France | 1 | 33% |
| United Kingdom | 1 | 33% |
| Unknown | 1 | 33% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 2 | 67% |
| Scientists | 1 | 33% |
Mendeley readers
The data shown below were compiled from readership statistics for 112 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 112 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Ph. D. Student | 28 | 25% |
| Student > Bachelor | 20 | 18% |
| Researcher | 13 | 12% |
| Student > Master | 13 | 12% |
| Professor | 5 | 4% |
| Other | 12 | 11% |
| Unknown | 21 | 19% |
| Readers by discipline | Count | As % |
|---|---|---|
| Biochemistry, Genetics and Molecular Biology | 41 | 37% |
| Agricultural and Biological Sciences | 19 | 17% |
| Medicine and Dentistry | 7 | 6% |
| Computer Science | 6 | 5% |
| Immunology and Microbiology | 2 | 2% |
| Other | 10 | 9% |
| Unknown | 27 | 24% |
Attention Score in Context
This research output has an Altmetric Attention Score of 1. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 22 May 2018.
All research outputs
#15,512,170
of 23,053,169 outputs
Outputs from Nucleic Acids Research
#22,376
of 26,422 outputs
Outputs of similar age
#207,419
of 325,559 outputs
Outputs of similar age from Nucleic Acids Research
#233
of 294 outputs
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