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June 2010

Submitting Mutation Data to the OI and EDS Database v1.3

Contributed by:Raymond Dalgleish
Originally posted:22nd June 2010: 9:44 am
Last updated:22nd June 2010: 9:52 am
Short URL:http://gen2phen.org/node/23436
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This document was created to provide a guide to submitters of data to the OI (http://oi.gene.le.ac.uk) and EDS (http://eds.gene.le.ac.uk) LOVD databases hosted at the University of Leicester. The original Microsft Word document is available to others who might wish to create specific guides for other installations of LOVD. Please contact Raymond Dalgleish at raymond.dalgleish@le.ac.uk
Tags:
  • Ehlers-Danlos syndrome
  • LOVD
  • LSDB
  • osteogenesis imperfecta
  • Other
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Adding a custom logo to LOVD

Contributed by:Raymond Dalgleish
Originally posted:22nd June 2010: 9:35 am
Last updated:6th July 2010: 10:18 am
Short URL:http://gen2phen.org/node/23435
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This document explains how to customise an installation of LOVD 2.0 by replacing the deafult LOVD logo with a logo of the user's choice.
Tags:
  • LOVD
  • LSDB
  • Other
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  • 1 attachment

Estimation of effect size distribution from genome-wide association studies and implications for future discoveries

Contributed by:Administrator
Originally posted:21st June 2010: 2:41 pm
Short URL:http://gen2phen.org/node/23393
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DOI: 
10.1038/ng.610
URL: 
http://feeds.nature.com/~r/ng/rss/aop/~3/LttK7uhZN-Q/ng.610

Nilanjan Chatterjee and colleagues report an analysis of the number and effect size distribution of susceptibility variants identified from current genome-wide association studies. They estimate the number of susceptibility loci expected to be discovered by GWAS over a range of sample sizes and compare to recent findings from GWAS for height, Crohn's disease and several cancers.

  • Nature Genetics
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  • Original article

GEN2PHEN presented at NeuroGenetics consortium meeting

Contributed by:Acacia Reiche
Originally posted:21st June 2010: 12:23 pm
Last updated:14th July 2011: 12:13 pm
Short URL:http://gen2phen.org/node/23402
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Dissemination number: 
248
About this activity
Date: 
May 2010
Status: 
Completed
Audience: 
Scientific
Institutions involved
Institutions involved: 
LUMC
  • LUMC
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Easy retrieval of single amino-acid polymorphisms and phenotype information using SwissVar

Contributed by:Acacia Reiche
Originally posted:21st June 2010: 11:14 am
Last updated:20th April 2011: 3:16 pm
Short URL:http://gen2phen.org/node/23396
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Dissemination number: 
243
About this activity
Date: 
Mar 2010
Status: 
Published
Audience: 
Scientific
Institutions involved
Institutions involved: 
SIB
Abstract, links and uploads
External link: 
http://bioinformatics.oxfordjournals.org/content/26/6/851.full
Citation: 
Mottaz A, David FPA, Veuthey AL and Yip YL. Easy retrieval of single amino-acid polymorphisms and phenotype information using SwissVar. Bioinformatics. 2010. 26 (6): 851–2.
DOI: 
10.1093/bioinformatics/btq028
  • SIB
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The network of influences between ethics, law and practices in regulation of genomic information: a 10 years overview.

Contributed by:Acacia Reiche
Originally posted:21st June 2010: 10:48 am
Last updated:14th July 2011: 5:04 pm
Short URL:http://gen2phen.org/node/23395
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Dissemination number: 
242
The Centre for Society & Genomics (the Netherlands), in collaboration with the ESRC Genomics Network (United Kingdom) and Valgen (Canada) hold its biannual Conference on Society and Genomics. 2010 May 27-8; Amsterdam, The Netherlands. E Rial-Sebbag, A Pigeon, A Cambon-Thomsen. The network of influences between ethics, law and practices in regulation of genomic information: a 10 years overview. Proceedings of the Conference on Society and Genomics. 2010 May 27-8; Amsterdam, The Netherlands. p.37-8.
About this activity
Date: 
May 2010
Status: 
Published
Audience: 
Scientific
Institutions involved
Institutions involved: 
INSERM
Abstract, links and uploads
Citation: 
Rial-Sebbag E, Pigeon A, Cambon-Thomsen A. The network of influences between ethics, law and practices in regulation of genomic information: a 10 years overview. Proceedings of the Conference on Society and Genomics. 2010 May 27-8; Amsterdam, The Netherlands. p.37-8.
  • INSERM
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Identity Federation related to GEN2PHEN activities

Contributed by:Acacia Reiche
Originally posted:18th June 2010: 5:50 pm
Last updated:21st June 2010: 10:53 am
Short URL:http://gen2phen.org/node/23371
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Dissemination number: 
241
Identity Federation related GEN2PHEN activities at P3G Meeting. 2010 Apr 26-7; Montreal, Canada.
About this activity
Date: 
Apr 2010
Status: 
Completed
Audience: 
Scientific
Institutions involved
Institutions involved: 
ULEIC
  • ULEIC
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International Symposium on Integrative Bioinformatics

Contributed by:Acacia Reiche
Originally posted:18th June 2010: 5:47 pm
Last updated:6th August 2010: 3:38 pm
Short URL:http://gen2phen.org/node/23370
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Dissemination number: 
240
presentation about ontologies underlying EMERALD at the International Symposium on Integrative Bioinformatics March 22-24th.
About this activity
Date: 
Mar 2010
Status: 
Completed
Audience: 
Scientific
Institutions involved
Institutions involved: 
EMBL
Abstract, links and uploads
External link: 
http://www.rothamsted.bbsrc.ac.uk/bab/conf/ib2010/
  • EMBL
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Pheno model & strategy for federated hub-and-spoke database network

Contributed by:Acacia Reiche
Originally posted:18th June 2010: 5:46 pm
Last updated:21st June 2010: 11:01 am
Short URL:http://gen2phen.org/node/23369
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Dissemination number: 
239
presented Pheno model & strategy for federated hub-and-spoke database network, at BBMRI meeting; Klagenfurt, Austria.
About this activity
Date: 
Apr 2010
Status: 
Completed
Audience: 
Scientific
Institutions involved
Institutions involved: 
UH.FGC
  • UH.FGC
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Italian appeal court: A genetic predisposition to commit murder?

Contributed by:Acacia Reiche
Originally posted:18th June 2010: 5:39 pm
Last updated:20th April 2011: 12:37 pm
Short URL:http://gen2phen.org/node/23368
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Dissemination number: 
238
Paper accepted by EHHG (with PPPC). European Journal of Human Genetics 18, 519-521 (May 2010) | doi:10.1038/ejhg.2010.31
About this activity
Date: 
May 2010
Status: 
Published
Audience: 
Scientific
Institutions involved
Institutions involved: 
INSERM
Abstract, links and uploads
External link: 
http://www.nature.com/ejhg/journal/v18/n5/full/ejhg201031a.html
Citation: 
Forzano F, Borry P, Cambon-Thomsen A, Hodgson SV, Tibben A, Vries P, van El C and Cornel M. Italian appeal court: a genetic predisposition to commit murder? European Journal of Human Genetics. 2010. 18, 519–521.
DOI: 
10.1038/ejhg.2010.31
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