A practical guide for the functional annotation of genetic variations using SNPnexus.

Abstract:

:Broader functional annotation of known as well as putative genetic variations is a valuable mean for prioritizing targets in disease studies and large-scale genotyping projects. In this article, we present a practical guide to SNPnexus, a web-based tool that provides an aggregate set of functional annotations for genomic variation data by characterizing related consequences at the transcriptome/proteome levels with in-depth analysis of potential deleterious effects, inferring physical and cytogenetic mapping, reporting related HapMap data, finding overlaps with potential regulatory, structural as well as conserved elements and retrieving links with previously reported genetic disease studies. We focus on the SNPnexus query system, its annotation categories and the biological interpretation of results.

journal_name

Brief Bioinform

authors

Dayem Ullah AZ,Lemoine NR,Chelala C

doi

10.1093/bib/bbt004

subject

Has Abstract

pub_date

2013-07-01 00:00:00

pages

437-47

issue

4

eissn

1467-5463

issn

1477-4054

pii

bbt004

journal_volume

14

pub_type

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