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September 2010

New version of HGVbaseG2P released with additional features and data

Contributed by:Rob Free
Originally posted:22nd September 2010: 9:50 am
Short URL:http://gen2phen.org/node/27492
Public document Public - anyone can view
http://www.hgvbaseg2p.org

New web-site features include:

Markers with p-values upload for temporary viewing in the context of public HGVbaseG2P data
SNP frequencies and LD plots from four HapMap panels are available within the HGVbaseG2P Browser
Exporting of regions of GWAS data to UCSC and Ensembl genome browsers
Implementation of HPO ontologies
General website GUI enhancements

New data sets include:
53 studies (HGVST515-568) from the NHGRI GWAS Catalog

The UniProt/Swiss-Prot Knowledgebase: a hub for informations about proteins

Contributed by:Livia Famiglietti
Originally posted:21st September 2010: 10:52 am
Last updated:22nd November 2010: 9:38 am
Short URL:http://gen2phen.org/node/27464
Public document Public - anyone can view
Dissemination number: 
282

Talk at the University of Lausanne in the frame of the Lausanne Biomolecular Modelling Seminars. GEN2PHEN to be mentioned in the talk. Distribution of brochures.

About this activity
Date: 
Oct 2010
Status: 
Completed
Audience: 
Scientific
Institutions involved
Institutions involved: 
SIB

The UniProt/Swiss-Prot Knowledgebase: a hub for informations about proteins

Contributed by:Livia Famiglietti
Originally posted:21st September 2010: 10:44 am
Last updated:22nd September 2010: 9:46 pm
Short URL:http://gen2phen.org/node/27463
Public document Public - anyone can view
Dissemination number: 
281
Gen2Phen mentioned in a talk given at the Biozentrum, University of Basel, in the frame of the Computational Biology Seminar Series. Brochure distribution.
About this activity
Date: 
Sep 2010
Status: 
Completed
Audience: 
Scientific
Institutions involved
Institutions involved: 
SIB

Mid-term Review: results of project GEN2PHEN

Contributed by:Acacia Reiche
Originally posted:15th September 2010: 2:15 pm
Short URL:http://gen2phen.org/node/27170
Interest group icon GEN2PHEN Partners' Zone
Public document Public - anyone can view
Tags:

Science Online London - introducing ORCID

Contributed by:Gudmundur A Thorisson
Originally posted:11th September 2010: 12:59 am
Last updated:30th December 2010: 4:55 pm
Short URL:http://gen2phen.org/node/27130
Interest group icon Researcher Identification
Public document Public - anyone can view

Last week I attended Science Online London for the second time and, like last year, enjoyed it a great deal. There's already been bucketloads of SOLO10 coverage on Twitter (http://twitter.com/#search?q=%23solo10),  FriendFeed (http://friendfeed.com/solondon) and elsewhere, which I won't add to here. I do however want to highlight a blog post by Martin Fenner who - with assistance from Geoff Bilder and myself  - chaired a breakout session on ORCID: 

ORCID as unique author identifier: what is it good for and should we worry or be happy? 

FriendFeed discussion: http://ff.im/qm8jt

 

ORCID is now a non-profit organization

Contributed by:Gudmundur A Thorisson
Originally posted:11th September 2010: 12:03 am
Short URL:http://gen2phen.org/node/27129
Interest group icon Researcher Identification
Public document Public - anyone can view

Things are moving yet faster on the contributor ID front. ORCID (Open Researcher & Contributor and ID: http://www.orcid.org) sent out a press release yesterday. From http://www.orcid.org/node/166:

Other considerations / proposals on the BRIF?

Contributed by:Laurence Mabile
Originally posted:7th September 2010: 10:26 am
Last updated:7th September 2010: 10:31 am
Short URL:http://gen2phen.org/node/26821
Interest group icon BRIF - Bioresource Research Impact Factor
Public document Public - anyone can view

You may have comments or ideas about the BRIF that are not directly related to one of the six other posts. We invite you to express yourself here in.

Ten years of genetics and genomics: what have we achieved and where are we heading?

Contributed by:Administrator
Originally posted:7th September 2010: 12:00 am
Last updated:17th September 2010: 1:00 pm
Short URL:http://gen2phen.org/node/26825
Public document Public - anyone can view
DOI: 
10.1038/nrg2878
URL: 
http://feeds.nature.com/~r/nrg/rss/aop/~3/Jexmat5Zqrk/nrg2878

To celebrate the first 10 years of Nature Reviews Genetics, we asked eight leading researchers for their views on the key developments in genetics and genomics in the past decade and the prospects for the future.

Establishing web-based gene variant databases for all Mendelian disorders

Contributed by:Acacia Reiche
Originally posted:6th September 2010: 11:20 am
Last updated:14th July 2011: 5:21 pm
Short URL:http://gen2phen.org/node/26819
Public document Public - anyone can view
Dissemination number: 
278
About this activity
Date: 
Jun 2010
Status: 
Published
Audience: 
Scientific
Institutions involved
Institutions involved: 
LUMC
Abstract, links and uploads
Citation: 
Fokkema IF, Celli J, Taschner PE, den Dunnen JT, &. the Gen2Phen Consortium. Establishing web-based gene variant databases for all Mendelian disorders. Eur J Hum Genet. 2010;18 Suppl 1:326.

Integrating common and rare genetic variation in diverse human populations

Contributed by:Administrator
Originally posted:1st September 2010: 6:30 pm
Last updated:2nd September 2010: 3:04 pm
Short URL:http://gen2phen.org/node/26650
Public document Public - anyone can view
DOI: 
10.1038/nature09298
URL: 
http://feeds.nature.com/~r/nature/rss/current/~3/rgFvZn3mymg/nature09298

Here, the analysis of 'HapMap 3' is reported — a public data set of genomic variants in human populations. The resource integrates common and rare single nucleotide polymorphisms (SNPs) and copy number polymorphisms (CNPs) from 11 global populations, providing insights into population-specific differences among variants. It also demonstrates the feasibility of imputing newly discovered rare SNPs and CNPs.

G2P Knowledge Centre is part of GEN2PHEN and funded by the Health Thematic Area of the Cooperation Programme of the European Commission within the VII Framework Programme for Research and Technological Development.

© GEN2PHEN 2011