CORE
🇺🇦
make metadata, not war
Services
Services overview
Explore all CORE services
Access to raw data
API
Dataset
FastSync
Content discovery
Recommender
Discovery
OAI identifiers
OAI Resolver
Managing content
Dashboard
Bespoke contracts
Consultancy services
Support us
Support us
Membership
Sponsorship
Community governance
Advisory Board
Board of supporters
Research network
About
About us
Our mission
Team
Blog
FAQs
Contact us
Bioinformatics for personal genome interpretation
Authors
Yana Bromberg
Emidio Capriotti
Maricel G. Kann
Nathan L. Nehrt
Publication date
1 January 2012
Publisher
'Oxford University Press (OUP)'
Doi
Cite
View
on
PubMed
Abstract
none4An international consortium released the first draft sequence of the human genome 10 years ago. Although the analysis of this data has suggested the genetic underpinnings of many diseases, we have not yet been able to fully quantify the relationship between genotype and phenotype. Thus, a major current effort of the scientific community focuses on evaluating individual predispositions to specific phenotypic traits given their genetic backgrounds. Many resources aim to identify and annotate the specific genes responsible for the observed phenotypes. Some of these use intra-species genetic variability as a means for better understanding this relationship. In addition, several online resources are now dedicated to collecting single nucleotide variants and other types of variants, and annotating their functional effects and associations with phenotypic traits. This information has enabled researchers to develop bioinformatics tools to analyze the rapidly increasing amount of newly extracted variation data and to predict the effect of uncharacterized variants. In this work, we review the most important developments in the field-the databases and bioinformatics tools that will be of utmost importance in our concerted effort to interpret the human variome. © The Author 2012. Published by Oxford University Press.openCapriotti, Emidio; Nehrt, Nathan L.; Kann, Maricel G.; Bromberg, YanaCapriotti, Emidio; Nehrt, Nathan L.; Kann, Maricel G.; Bromberg, Yan
Similar works
Full text
Open in the Core reader
Download PDF
Available Versions
CiteSeerX
See this paper in CORE
Go to the repository landing page
Download from data provider
oai:CiteSeerX.psu:10.1.1.932.2...
Last time updated on 01/11/2017
Archivio istituzionale della ricerca - Alma Mater Studiorum Università di Bologna
See this paper in CORE
Go to the repository landing page
Download from data provider
oai:cris.unibo.it:11585/564944
Last time updated on 04/09/2019
Crossref
See this paper in CORE
Go to the repository landing page
Download from data provider
info:doi/10.1093%2Fbib%2Fbbr07...
Last time updated on 05/06/2019