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  • Blog - Human Variome Project
    sand Now all you have to do is train the birds to pick up the sand and deposit it into the correct bucket according to your bucket classification system but why would a bird do this Food Why would a researcher do this Publications To pull down the analogous curtain grains are genetic variants birds are researchers food is scientific recognition and buckets are genetic databases but the problem is really a problem We need to catalogue all the genetic variants in the world because it is this data that will enable us to get a handle on genetic disease diseases like sickle cell anemia cystic fibrosis polycystic kidney disease Tay Sachs and many others Whilst the birds favourite food continues to be publications publications don t get the sand sorted into buckets fast enough There is a faster approach it just requires a different sort of food MA or microattribution Microattribution opens up the discovery of scientific knowledge to the crowd and is part of a much larger effort on behalf of the Human Variome Project to encourage the collection and sharing of genetic data on a global scale But there are many beaches around the world and connecting this data is a challenge in itself requiring governments universities companies health providers researchers and citizens to all work together to put forward the data they ve collected into a network from which everyone can learn from To learn more about the Human Variome Project and its role as a partner NGO of UNESCO check out this editorial in Nature Genetics Image sourced under Creative Commons via Flickr from jdrephotography 0 Comments 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

    Original URL path: http://www.humanvariomeproject.org/blog/categories/listings/microattribution.html (2016-02-10)
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  • Human Variome Project International Limited Response to the Global Alliance for Genomics and Health Draft Constitution - Blog - Human Variome Project
    being an unincorporated Association Is the organisation registered as such as a legal entity in a specific jurisdiction to give it legal status to contract hold funds and do all other things necessary Further we believe that the constitution would benefit from a more explicit definition of the governance structure of the GA4GH specifically the relationships between the various organisational committees committee procedures terms of reference for the Steering Committee and Working groups and procedures for decision making Membership We note the document clearly differentiates between two different classes of members Organisational and Individual The GA4GH may wish to consider including more information on how the participation of Organisational and Individual members will be balanced and how this participation will be solicited and effected This will become quite important if the suggestions that we make below in the section on the Steering Committee are adopted Steering Committee The Steering Committee is presented as the governing body of the organisation The organisation membership is large and diverse and we are certain will grow Like any corporate or not for profit the law in most countries requires the majority of governing body members to be elected representatives of the members We believe this principle should apply to such a prominent body as GA4GH in the following ways Steering committee membership post transition we see the practical need for the SC to have ability to appoint a portion of the Steering Committee but for transparency and accountability having the majority elected by the membership with member numbers always representing a majority on the Steering Committee at any time Likewise the principle should apply to approval of the Constitution and any amendments to be by majority vote of the members Three year terms with staggered rotation is a good model Conflicts of interest It

    Original URL path: http://www.humanvariomeproject.org/blog/human-variome-project-international-limited-response-to-the-global-alliance-for-genomics-and-health-draft-constitution.html (2016-02-10)
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  • African genomics projects highlighted at major international scientific meeting - Blog - Human Variome Project
    development of diseases primarily affecting individuals of African descent to investigating the underlying genomic components of susceptibility to infectious diseases such as trypanosomiasis Researchers also reported on the development of a continent spanning bioinformatics capability and a network of state of the art biorepositories Professor Raj Ramesar from the University of Cape Town who chaired the session and sits on the H3Africa Steering Committee said Twenty seven African nations are currently involved in the H3Africa Consortium covering twenty research project n diseases of local relevance with funding in the order of US 74 million provided by the US National Institutes of Health and the UK Wellcome Trust The session during the Human Variome Project meeting was directed at bringing the progress and results of these important projects to the attention of African governments and highlighting the current research impetus in their countries towards translating the outcomes of these projects for local utility Dr Oyekanmi Nash from the National Biotechnology Development Agency NABDA Abuja Nigeria and part of the project that is creating the African Bioinformatics Network to support researchers through the development of bioinformatics capacity on the continent highlighted the strength of African research Africa now has the capacity to support the research that needs to be done Before African researchers were forced to go overseas to train and undertake research projects Now African scientists are able to collaborate globally from Africa It is now a fertile environment for science and technology development Professor Richard Cotton the Scientific Director of the Human Variome Project an international organisation to facilitate the free and open sharing of genomic knowledge and who arranged for the session to take place remarked What we saw presented yesterday was a firm foundation on which further world class research work can be launched The research that the H3Africa Consortium is undertaking is of a quality that puts it among some of the best in the world ENDS Contact Information Professor Raj Ramesar Head of the Division of Human Genetics University of Cape Town This email address is being protected from spambots You need JavaScript enabled to view it Professor Richard Cotton Scientific Director Human Variome Project This email address is being protected from spambots You need JavaScript enabled to view it About the Human Variome Project www humanvariomeproject org The Human Variome Project is an international consortium of heath care professionals researchers and policy makers that are committed to the idea of free and open sharing of genomic variation information Our members come from over 80 countries and from every region of the world Individually and together they are working to establish the standards systems and infrastructure to ensure that the knowledge and insights into our genome gained in their own countries are shared in a responsible manner with every other country The Human Variome Project acts as an umbrella organisation across multiple countries institutions and initiatives It works to encourage communication and collaboration around it central vision the improvement of global health through the sharing of

    Original URL path: http://www.humanvariomeproject.org/blog/african-genomics-projects-highlighted-at-major-international-scientific-meeting.html (2016-02-10)
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  • A Global Alliance to Enable Responsible Sharing of Genomic and Clinical Data - Blog - Human Variome Project
    and North and South America have joined together to form a non profit global alliance that will work to develop this common framework enabling learning from data while protecting participant autonomy and privacy Each organization has signed a non binding Letter of Intent pledging to work together to create a not for profit inclusive public private international non governmental organization modeled on the World Wide Web Consortium W3C that will develop this common framework They have committed to furthering innovation by supporting the creation of open technology standards to support the development of interoperable information technology platforms that will embody these principles and accelerate progress in biomedicine The aim is that ultimately data will be stored in platforms built using the interoperable standards The common vision for the platforms is not that they will be a shared repository for data rather the platforms will enable sharing and learning regardless of where data are stored In annoncing the Global Alliance to Human Variome Project Consortium members Professor Richard Cotton the Project s Scientific Director said The envisioned work of the Global Alliance is entirely complementary to the Human Variome Project s work in ensuring the free and open sharing of genetic variant information is integrated into routine clinical practice in every country of the world As a founding partner of the Global Alliance we now have the opportunity to ensure that our work on the clinical side of medical genetics and genomics is of use and available to the research world For more information about the Global Alliance and to view the White Paper and list of signatories see the announcement on the Broad Institute website Venezuela join the Project The Human Variome Project and UNESCO celebrate 60 Comments No comments made yet Be the first to submit a comment Leave

    Original URL path: http://www.humanvariomeproject.org/blog/a-global-alliance-to-enable-responsible-sharing-of-genomic-and-clinical-data.html (2016-02-10)
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  • South East Asian Node Launched in Malaysia - Blog - Human Variome Project
    October These countries obviously recognise that genetic and genomic healthcare is an important part of a well developed health system and they are serious about providing these services to their citizens The launch of the Human Variome Project South East Asian Node was officiated by Tan Sri Muhyiddin Bin Yassin Deputy Prime Minister of Malaysia and Minister for Education and Professor Dato Dr Omar Osman Vice Chancellor of Universiti Sains Malaysia It was held during Hari UNESCO Malaysia 2013 the United Nations Educational Scientific and Cultural Organisation s annual celebration of Malaysia Day at Dataran MemorialKemerdekaan Melaka on the 3rd of October 2013 In launching the Human Variome Project Malaysian Node Muhyiddin Bin Yassin noted that the Human Variome Project provides space for genetic diseases studied in various countries and also provides access to current reference source for doctors and researchers It is to help their daily clinical practice as well as help in the field of biomedical research Theinformation obtained will be used for global importance Professor Sir John Burn to deliver the 2013 R Doug Australian Led Human Variome Project Launches Sout 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

    Original URL path: http://www.humanvariomeproject.org/blog/south-east-asian-node-launched-in-malaysia.html (2016-02-10)
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  • Submission regarding the Draft NIH Genomic Data Sharing Policy - Blog - Human Variome Project
    generated by all NIH funded research that involves large scale human and nonhuman genomic data produced by array based or high throughput genomic technologies such as GWAS SNP whole genome transcriptomic epigenomic and gene expression data irrespective of funding level and funding mechanism This is an admirable start but we must ask why limit this policy to large scale genomic data There is undoubtedly much data generated by NIH funded research projects that would not be considered large scale that has potential value both in terms of re use in future research projects and also clinically when diagnosing and treating patients afflicted with rare genetic disorders The technical and administrative effort required to submit such data to an NIH funded repository or otherwise is not burdensome and could be easily integrated into existing research reporting workflows The NIH in drafting this Policy obviously acknowledges the benefits of wide scale data sharing It seems unnecessarily restrictive and potentially confusing to limit the scope of this policy to certain research projects that are categorized only under the ambiguous phrase involves large scale genomic data 3 2 Human Genomic Data Section IV C We are pleased to see that the draft policy does not seek to restrict the submission of data by research projects within the scope of the Policy solely to NIH funded repositories Although NIH funded repositories play a key role in the emerging data sharing infrastructure that is operating globally they are by no means the only places that such data could be stored and shared Indeed in quite a large number of cases future research projects and clinical practice would be better served if the data from NIH funded research projects were shared much more broadly than between NIH funded repositories Numerous disease specific research and clinical communities are well served and have been well served for over a decade by international gene disease specific databases GDSDBs or locus specific databases LSDBs While it could be argued that individual researchers working in these disease areas would be aware of these extant resources and include submission to them in their data sharing plans and this might very well be the case However we still believe that it would be wise for the NIH to include a more direct acknowledgement of data sharing options beyond those funded by the NIH The desired end result of this Policy is obviously to better human health through improved research and clinical delivery encouraging researchers to think more carefully about where the submission of their data would be most useful would go a long way to reaching this end result Finally we are a little concerned over the implied insistence of submission to an NIH funded repository as the minimum requirement of this policy as indicated by the sentence NIH designated data repositories need not be the exclusive source for facilitating the sharing of genomic data Our concerns are related to how this policy would be applied to those research projects that generate data via

    Original URL path: http://www.humanvariomeproject.org/blog/submission-regarding-the-draft-nih-genomic-data-sharing-policy.html (2016-02-10)
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  • HVP1: Inauguration | HVP Biennial Meetings | HVP Meetings & Events | biennial-meetings - Human Variome Project
    meeting Each session had a Chair and Co chair who were responsible for the functioning of the session All attendees drew on emerging and current good practices for the derivation of recommendations All attendees were invited to submit recommendations for any and all sessions Over 50 of the time in each session was reserved for open discussion amongst the attendees with invited participants playing a major role At the end of each session the Chair and Co chair elicited the logical number of recommendations agreed on by the conference attendees The outcomes and recommendations of each session totalling a staggering 96 recommendations were amalgamated into a single document and published in Nature Genetics early in 2007 ParticipantsOrganizations American College of Medical Genetics USA American Society for Human Genetics USA Centre for Arab Genomic Studies Centers for Disease Control and Prevention USA CLIA USA EBI Europe EuroGentest European Commission European Genetic Quality Control Group European Society of Human Genetics Europe HAPMAP HGVS HuGENet HUGO HUGO Gene Nomenclature Committee Human Genetics Society of Australia Australia Human Genome Project International Federation of Human Genetic Societies March of Dimes USA NCBI USA NHGRI USA NHMRC NIH National Institute of Ageing OECD Pharmacogenetics Research Network UNESCO VPAC WHOJournals American Journal of Human Genetics American Journal of Medical Genetics Annals of Human Genetics Editor Clinical Genetics European Journal of Human Genetics Genetics in Medicine Genome Research Genomics Human Genetics Human Molecular Genetics Human Mutation Editor Journal of Inherited Metabolic Disease Nature GeneticsCountries Argentina Australia Belgium Brazil Canada China Europe France India Japan Mexico Netherlands Philippines South Africa Switzerland Tunisia United Arab Emirates United Kingdom United States of America ZimbabweLocus Specific Databases Breast Cancer Larry Brody Duchenne Muscular Dystrophy Johan den Dunnen Fanconi Anaemia Arleen Auerbach HLA Steve Marsh InSight Annika Londblom PAH Charles ScriverGeneral Databases OMIM

    Original URL path: http://www.humanvariomeproject.org/meetings/biennial/hvp1.html (2016-02-10)
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  • HVP2: Planning | HVP Biennial Meetings | HVP Meetings & Events | biennial-meetings - Human Variome Project
    solutions to many problems may now be available and simply need to be adapted to other genes or improved This planning meeting has been designed to maximize exposure of the field with an emphasis on single gene disorder where the need is greatest at the clinical level to the various systems available and planned to enhance cross collaboration and avoid unnecessary work and expense We expect the meeting to consolidate or generate key subprojects similar to the HVP InSiGHT initiative www insight group org to pilot data flow from patient to central database These subprojects will relate to the topics of the 96 recommendations which were summarized by the Working Groups and published in Nature Genetics in April 2007 A range of individuals with key projects completed underway or planned across all types of inherited disease will be encouraged to attend this meeting Naturally those involved with central databasing browsing and common disease will also need to be involved The aim of the HVP is to generate a common system which can be applied to all genes in all countries to collect variations and their effects Meeting Format Rather than dividing the topic into areas of need as occurred with the first meeting the meeting will be divided into the following components necessary for the complete system and to satisfy the 96 recommendations Some of these relate to the February 2007 Working Groups confirmed members attached which will be confirmed finalized added to at the end of the meeting Ethics Data collection from laboratories Data collection from clinics Data transfer databasing gene specific LSDB Overall data integration and access Assessment of pathogenicity translational healthcare Publication credit incentives Developing Emerging countries world wide collection Funding mechanisms governance Pilot projects already covering several components Each topic will have two discussion leaders one

    Original URL path: http://www.humanvariomeproject.org/meetings/biennial/hvp2.html (2016-02-10)
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