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  • HVP and the World Health Organisation: a call for participation - Blog - Human Variome Project
    Fox or Safari This survey asks respondents to rate approximately 100 different suggestions generated during the first phase of the project carried out in 2011 12 These suggestions are grouped into ten different priority areas and respondents are asked to indicate their own priorities within areas covering priority areas for research translating research into practice building research communities and managing resources and knowledge There are also several opportunities to make more general comments Responses will be analyzed and evaluated by WHO and HVP will ask WHO to share these results with our members during the first half of 2013 For any questions regarding the survey please contact Dominique Besson Technical Officer WHO on 41 22 791 1419 or by email This email address is being protected from spambots You need JavaScript enabled to view it The deadline for completing the survey is 31 December 2012 Please assist by taking the time to complete the on line survey it should take about ten minutes Results go directly to WHO and are confidential https extranet who int datacol form asp id 2139 User name guest Password guest Major Grant Program Announced by Human Variome Pro Ensuring the Free and Open Sharing of Published Va Comments No comments made yet Be the first to submit a comment Leave your comment Don t forget to log in If you re a member of the Human Variome Project Consortium you might want to log in before posting a comment Not a member Why not sign up Guest Wednesday 10 February 2016 Captcha Image I have read and agree to the Terms Conditions Categories News Press Releases Statements Speeches Capacity Building Collaborating Projects HVP Country Nodes China Czech Republic Republic of Korea South East Asia Regional USA United Kingdom Venezuela Ethical Legal Social Issues Microattribution Subscribe

    Original URL path: http://www.humanvariomeproject.org/blog/hvp-and-the-world-health-organisation-a-call-for-participation.html (2016-02-10)
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  • Venezuela join the Project - Blog - Human Variome Project
    in Caracas and with the Instituto de Investigaciones Genèticas Dr Heber Villalobos Cabrera in Maracaibo estado Zulia Authorities at the Genetics Unit Hospital Vargas de Caracas Escuela de Medicina JM Vargas Facultad de Medicina Universidad Central de Venezuela and Hospital de Clínicas Caracas have agreed to host the computational infrastructure for the Venezuelan Node A computer center adapted for data analysis and communication using the LOVD3 system will be used as suggested by the HVP organization The HVP Venezuelan Node will be a national repository of genetic variation information and will begin its work with a focus on cystic fibrosis Duchenne Becker s muscular dystrophies haemophilias A and B Fragile X Syndrome Gaucher disease Autism gene candidates GABRB3 GABRG3 GABRA5 Colon Cancer Prostate Cancer Spinal Muscular Atrophy polymorphisms in new mutations in metilentetrahidrofolato reductasa MTHFR Huntington s disease spinocerebellar ataxias and genetic polymorphisms associated with cardiovascular disease The Venezuelan node will be working in collaboration with the Spanish and Mexican Node Especially in new mutation determinations in neurogenetic conditions Ensuring the Free and Open Sharing of Published Va A Global Alliance to Enable Responsible Sharing of Comments No comments made yet Be the first to submit a comment Leave your comment Don t forget to log in If you re a member of the Human Variome Project Consortium you might want to log in before posting a comment Not a member Why not sign up Guest Wednesday 10 February 2016 Captcha Image I have read and agree to the Terms Conditions Categories News Press Releases Statements Speeches Capacity Building Collaborating Projects HVP Country Nodes China Czech Republic Republic of Korea South East Asia Regional USA United Kingdom Venezuela Ethical Legal Social Issues Microattribution Subscribe by Email Get fresh blog posts delivered straight to your inbox Subscribe Popular Posts Human Variome

    Original URL path: http://www.humanvariomeproject.org/blog/venezuela-join-the-project.html (2016-02-10)
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  • United Kingdom joins the Project - Blog - Human Variome Project
    Country Node This brings the total number of HVP Country Nodes active so far to 15 USA joins as HVP Country Node Questions about the 4th Human Variome Project Bien Comments No comments made yet Be the first to submit a comment Leave your comment Don t forget to log in If you re a member of the Human Variome Project Consortium you might want to log in before posting a comment Not a member Why not sign up Guest Wednesday 10 February 2016 Captcha Image I have read and agree to the Terms Conditions Categories News Press Releases Statements Speeches Capacity Building Collaborating Projects HVP Country Nodes China Czech Republic Republic of Korea South East Asia Regional USA United Kingdom Venezuela Ethical Legal Social Issues Microattribution Subscribe by Email Get fresh blog posts delivered straight to your inbox Subscribe Popular Posts Human Variome Project International Limited Response to the Global Alliance for Genomics and Health Draft Constitution African genomics projects highlighted at major international scientific meeting A Global Alliance to Enable Responsible Sharing of Genomic and Clinical Data South East Asian Node Launched in Malaysia Submission regarding the Draft NIH Genomic Data Sharing Policy Navigate Home About Activities Solutions

    Original URL path: http://www.humanvariomeproject.org/blog/united-kingdom-joins-the-project.html (2016-02-10)
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  • USA joins as HVP Country Node - Blog - Human Variome Project
    By sharing this information on the variations and the effect they have on patients the quality of healthcare can be standardised within a country HVP Country Nodes create a valuable service for healthcare delivery and planning as can also be used a as provide a platform for medical research on specific populations The Czech Republic welcomed as HVP Country Node United Kingdom joins the Project Comments No comments made yet Be the first to submit a comment Leave your comment Don t forget to log in If you re a member of the Human Variome Project Consortium you might want to log in before posting a comment Not a member Why not sign up Guest Wednesday 10 February 2016 Captcha Image I have read and agree to the Terms Conditions Categories News Press Releases Statements Speeches Capacity Building Collaborating Projects HVP Country Nodes China Czech Republic Republic of Korea South East Asia Regional USA United Kingdom Venezuela Ethical Legal Social Issues Microattribution Subscribe by Email Get fresh blog posts delivered straight to your inbox Subscribe Popular Posts Human Variome Project International Limited Response to the Global Alliance for Genomics and Health Draft Constitution African genomics projects highlighted at major international

    Original URL path: http://www.humanvariomeproject.org/blog/usa-joins-as-hvp-country-node.html (2016-02-10)
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  • Donna Maglott - Human Variome Project
    databases including those supporting reference sequences RefSeq Gene STS markers Conserved CoDing Sequences CCDS Map Viewer RefSeqGene the NIH Genetic Testing Registry GTR MedGen and ClinVar This work has involved extensive interactions with multiple groups including OMIM nomenclature committees GeneReviews TM UniProtKB and model organism databases She played a lead role in developing the functions to track and identify genes for NCBI s annotation group In recent years she has become more involved with representation of rare variation and relationships to human health She had a lead in introducing use of the HGVS standard to dbSNP s submission processing and to displays of variation in multiple NCBI tools She has encouraged submission from locus specific databases to central databases and her staff has mentored processing of variation data in GeneReviews TM and OMIM into ClinVar dbSNP and dbVar She has also contributed to the development of PheGenI a resource associating common variation to human phenotype She currently focuses on projects supporting Medical Genetics at NCBI namely RefSeqGene LRG http www ncbi nlm nih gov refseq rsg MedGen http www ncbi nlm nih gov medgen and ClinVar http ncbi nlm nih gov clinvar while continuing to work with multiple groups to

    Original URL path: http://www.humanvariomeproject.org/former-isac-members/donna-maglott.html (2016-02-10)
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  • Runlin Ma - Human Variome Project
    Bachelors Degree major plant protection in 1978 then went to the United States and obtained a PhD in insect biochemistry at Kansas State University He went on to do post doctoral work at the University of Illinois in the molecular genetics field He went back to China in 1997 and worked as a senior scientist at the China Institute of Genetics He is now a professor and a PhD supervisor in the National Key Laboratory of Molecular Developmental Biology Institute of Genetics and Developmental Biology Chinese Academy of Sciences Dr Ma is an expert in animal reproduction immunology and early embryonic development His research focuses on animal models for organ development and autoimmune disease and also on MHC functional genes and their evolution His research has resulted in more than 40 scientific papers published in a variety of peer reviewed journals including the high impact journal Science Dr Ma has gained multiple honours and awards for his research work such as National Outstanding Young Funding recipient in 2001 National Natural Science Award reviewer and an honorary professor at Massey University in New Zealand Dr Ma also serves as Director of the Expert Committee HVP China Node Working Committee Navigate Home

    Original URL path: http://www.humanvariomeproject.org/former-isac-members/runlin-ma.html (2016-02-10)
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  • ISAC Documents - ISAC - Human Variome Project
    1 0 CC BY SA 4 0 Published 2014 05 12 ISAC43 2014 Agenda Joint Meeting 19 May 2014 Version 1 0 CC BY SA 4 0 Published 2014 05 12 ISAC42 2014 Minutes 10 April 2014 Version 1 0 CC BY SA 4 0 Published 2014 04 09 ISAC41 2014 Agenda 10 April 2014 Version 1 0 CC BY SA 4 0 Published 2014 04 09 ISAC40 2014 Minutes 27 February 2014 Version 1 0 CC BY SA 4 0 Published 2014 02 26 ISAC39 2014 Agenda 27 February 2014 Version 1 0 CC BY SA 4 0 Published 2014 02 20 ISAC38 2014 Minutes 30 January 2014 Version 1 0 CC BY SA 4 0 Published 2014 02 06 ISAC37 2014 Agenda 30 January 2014 Version 1 0 CC BY SA 4 0 Published 2014 01 23 ISAC36 2013 Minutes 12 December 2013 Version 1 0 CC BY SA 4 0 Published 2013 12 11 ISAC35 2013 Agenda 12 December 2013 Version 1 0 CC BY SA 4 0 Published 2013 12 08 ISAC34 2013 Minutes 21 November 2013 Version 1 0 CC BY SA 4 0 Published 2013 11 20 ISAC33 2013 Agenda 21 November 2013 Version 1 0 CC BY SA 4 0 Published 2013 11 14 ISAC32 2013 Minutes 23 October 2013 Version 1 0 CC BY SA 4 0 Published 2013 10 22 ISAC31 2013 Agenda 23 October 2013 Version 1 0 CC BY SA 4 0 Published 2013 10 16 ISAC30 2013 Minutes 26 September 2013 Version 1 0 CC BY SA 4 0 Published 2013 09 26 ISAC29 2013 Agenda 26 September 2013 Version 1 0 CC BY SA 4 0 Published 2013 09 24 ISAC28 2013 Minutes 22 August 2013 Version 1 0 CC BY SA 4 0 Published 2013 08

    Original URL path: http://www.humanvariomeproject.org/viewcategory/4.html?lang=en&limit=20&limitstart=40 (2016-02-10)
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  • ISAC Documents - ISAC - Human Variome Project
    0 Published 2013 06 09 ISAC23 2013 Agenda 10 June 2013 Version 1 0 CC BY SA 4 0 Published 2013 05 30 ISAC22 2013 Minutes 9 May 2013 Version 1 0 CC BY SA 4 0 Published 2013 05 08 ISAC21 2013 Agenda 9 May 2013 Version 1 0 CC BY SA 4 0 Published 2013 05 05 ISAC19 2013 Agenda 28 March 2013 Version 1 0 CC BY SA 4 0 Published 2013 03 28 ISAC20 2013 Minutes 28 March 2013 Version 1 0 CC BY SA 4 0 Published 2013 03 28 ISAC18 2013 Minutes 28 February 2013 Version 1 0 CC BY SA 4 0 Published 2013 02 28 ISAC17 2013 Agenda 28 February 2013 Version 1 0 CC BY SA 4 0 Published 2013 02 07 ISAC16 2013 Minutes 21 January 2013 Version 1 0 CC BY SA 4 0 Published 2013 01 20 ISAC15 2013 Agenda 21 January 2013 Version 1 0 CC BY SA 4 0 Published 2013 01 20 ISAC14 2013 WG04 2012 Sequence variant descriptions Charter Version 1 0 CC BY SA 4 0 Published 2013 01 20 ISAC13 2013 WG03 2012 Minimal content for gene variant databases Charter Version 1 0 CC BY SA 4 0 Published 2013 01 20 ISAC12 2013 WG02 Assigning pathogenicity to a genetic variant Charter Version 1 0 CC BY SA 4 0 Published 2013 01 20 ISAC11 2012 Minutes 17 December 2012 Version 1 0 CC BY SA 4 0 Published 2013 01 08 ISAC10 2012 Agenda 17 December 2012 Version 1 0 CC BY SA 4 0 Published 2012 12 12 ISAC09 2012 Minutes 7 November 2012 Version 1 0 CC BY SA 4 0 Published 2012 11 07 ISAC08 2012 Agenda 7 November 2012 Version 1 0 CC BY SA 4 0

    Original URL path: http://www.humanvariomeproject.org/viewcategory/4.html?lang=en&limit=20&limitstart=60 (2016-02-10)
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