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  • BRCA Challenge - Human Variome Project
    this area This collaborative initiative was approved and Sir John was named co chair of the BRCA Challenge alongside Stephen Channock from the Laboratory of Translational Genomics at the National Cancer Institute To bring focus to the BRCA Challenge an initial meeting took place in May 2014 at the 5th Biennial Human Variome Project Meeting held at UNESCO headquarters Paris to initiate dialogue between the many groups working on the topic around the world Major Groups represented at the HVP5 UNESCO meeting were BCAC BIC CIMBA CIRCOS ClinGen ClinVar COMPLEXO ENIGMA Global Alliance for Genomics and Health HCI Human Variome Project InSiGHT kConFab LOVD Databases SCRP UMD The overall aim of the BRCA Challenge is to apply the latest techniques of genetics and genomics to the delivery of health services related to breast cancer The Challenge will seek to promote the responsible collection curation sharing and use of variation data derived from genomic and genetic sequencing in many countries and create a harmonious data sharing approach between existing databases This approach will enable the quick and cost effective delivery of healthcare by providing clinically actionable information in a consistent fashion across the globe The BRCA Challenge has three deliverables Develop population based assessment of allele frequencies of variants using available sequencing resources Develop a solution for data in existing datasets including 1000 Genomes UK10K NHLBI Grand Opportunity Exome Sequencing Project Cancer Genome Atlas International Cancer Genome Consortium Expand the resource to incorporate new NGS data Build federated data collection methodology for pathogenic variants of BRCA1 BRCA2 Build structure for data sharing Begin with BIC LOVD UMD ClinVar Fully integrate ENIGMA CIMBA other consortia Invite diagnostic other data sources Establish consensus on terminology Begin with non controversial variants highly pathogenic benign Work towards common classification applied to all data available in

    Original URL path: http://www.humanvariomeproject.org/brca-challenge.html (2016-02-10)
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  • Global Globin 2020 Challenge - Human Variome Project
    even cure Forming a foundation for more broadly focused genomic medicine by working with national regional and local health care professionals to raise public awareness of the genetic basis of haemoglobinopathies GG2020 Challenge Goals Goals of the project fall into the following main areas To see growth in the quality and quantity of curated inputs from low and middle income countries participating in the project into internationally recognized genetic databases Tackling haemoglobinopathies is an ideal entry point for these countries to develop the necessary infrastructure and expertise that can expand genetics and genomic medicine into other areas of health service delivery To harmonize the sharing of all relevant variant data between countries in accordance with international best practice that integrates all the relevant ethical and regulatory frameworks and policies required to serve and protect patients at the same time that the necessary biotechnical systems and procedures are developed To ensure that the storage curation and sharing of the relevant DNA variation information is sustainable in the medium and longer term by expanding and strengthening the international network of professionals including curators researchers clinicians bioinformaticians counsellors patient groups and health bureaucrats Pursuit of these goals will raise the profile of genomic medicine in low and middle income countries among health bureaucrats in national regional and international health organizations It will also develop the capability of health professionals required for diagnosing treating and counseling carriers in low and middle income countries thus giving them a greater voice and profile among genomic researchers and clinicians globally regionally and nationally This will mean that they can actively participate in the various partnerships required to encourage genomic medicine research and innovative health service delivery in low resource settings GG2020 Members Resources Countries involved in GG2020 Background information and further resources Project leaders Prof Raj Ramesar

    Original URL path: http://www.humanvariomeproject.org/gg2020/index.html (2016-02-10)
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  • Sequence Variant Description Committee - Human Variome Project
    alongside the more widely understood HGVS system This level of adoption has led to the HGVS nomenclature being referred to as a de facto standard Unfortunately there is no formalized reliable and scalable process in place for maintaining and updating the nomenclature Such a process is necessary to handle new sequence variant features that require description updating existing descriptions to keep pace with evolving practice standards etc The result of this situation is a specification that is never completely up to date and when improvements are made they are done so based on input from a relatively small number of experts To address this the Human Variome Project Human Genome Variation Society and HUGO convened a joint Working Group in 2013 to publish an updated nomenclature specification Joint Standard through the Human Variome Project Standards Development Process see http short variome org PD06 2011 and to develop a sustainable process for maintaining and updating this standard Working Group Members Johan den Dunnen Chair Stylianos Antonarakis Donna Maglott Jean McGowan Jordan Peter Taschner Raymond Dalgleish Marc Greenblatt Anne Francoise Roux Reece Hart Activity Discussions regarding the advantages and disadvantages of the recommendations made are necessary in order to continuously improve the system The Working Group handles all requests to change or extend the current recomendation All proposals can be sent to This email address is being protected from spambots You need JavaScript enabled to view it SVD WG also welcomes complicated cases not yet covered with a suggestion of how to describe these The SVD WG invites investigators to communicate with them regarding thier recommendations To view proposals currently open for Community Consultation as well as previously discussed prosals please visit the HGVS website After publication each proposal will be open for comment for a 2 month period If you would

    Original URL path: http://www.humanvariomeproject.org/activities/sequence-variant-description-committee.html (2016-02-10)
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  • UNESCO Ethics & Standards Project - Human Variome Project
    by UNESCO member states as they formulate national level policies related to the collection curation interpretation and sharing of genomic variation data and guidance for Member States on existing standards and best practices that might be used as models for new policies In the course of this project the Standards and Ethics Panels will each for their area of competence Develop a set of broad principles for how genetic and genomic data resulting from scientific research and clinical practice should be collected shared and used Produce a list of existing normative documents published by nationally based professional colleges and societies national governments national standards institutes or regional or international organisations that are applicable to The collection curation interpretation and sharing of genetic and genomic variation data and The movement of genetic and genomic variation data across national borders Analyse the existing normative documents to assess their adherence to the broad principles and identify gaps where additional normative work is required Prepare guidelines for consideration by Member States that provides information on What standards currently exist in each country Where standards are missing or incomplete Where consensus exists and to what extent Suitable models for developing new standards and What bodies should be charged with developing new standards Desired outcomes Successful completion of the project will produce a resource for UNESCO Member States to draw on when developing and operating national genetic and genomic data sharing infrastructure in regards to technical and ethical norms It is believed that this will lower the barrier to entry for creating new data sharing infrastructure and as such will engender growth in the quantity of genetic variation data being shared across national borders Project scope The project is concerned with the treatment of information about genomic variations and its relevance to ongoing biomedical research and clinical management of patients The treatment of biological samples is out of scope for this project The project considers both germline and somatic variation to be in scope The project will create a document for Member States that catalogues and provides commentary on existing normative documents that cover the collection curation interpretation and sharing of genomic variation information In situations where two or more existing normative documents are in conflict the project will note the conflict and in some instances provide commentary on the conflict but resolution of the conflict will not be considered to be within the scope of the current project The project will use information that is already available i e normative documents that have already been adopted and are being adhered to The project will not seek to create guidelines in areas where existing normative documents are not available The project will only consider normative documents that have already been published through a recognised mechanism at the international regional national or sub national level Project approach The specialist work of the project will be undertaken by two Expert Panels made up of domain experts identified by UNESCO with the assistance of its NGO partner the Human

    Original URL path: http://www.humanvariomeproject.org/activities/unesco-ethics-standards-project.html (2016-02-10)
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  • Collaborations - Human Variome Project
    of genomic knowledge sharing from a research perspective the Human Variome Project is approaching it from a primarily clinical perspective We are working to integrate knowledge sharing into routine clinical practice so that insights into health and disease uncovered during genetic and genomic testing and clinical care can be freely and openly shared These are parallel and complimentary approaches to address the same issue Both the Human Variome Project and the GA4GH recognise this Both organisations recognise that they are approaching the issue from different perspectives and that these differing perspectives are valuable to both organisations The Human Variome Project works with individual countries to build genetics and genomics capacity within their national health systems specifically around knowledge sharing in a responsible manner We also work with international expert groups to develop knowledge sharing resources and formal variant interpretation processes for specific genes and diseases We are a truly international organisation with over 1 100 individual members from 81 countries in every region of the world We work closely with UNESCO to bring the issue of genomic knowledge sharing to the attention of national governments and are establishing a joint work programme with WHO on genetics genomics and public health The GA4GH recognises that the Human Variome Project brings a highly valued clinical genetics contribution to the table Human Genome Organisation http www hugo international org Human Genome Organisation HUGO is the international organisation of scientists involved in human genetics HUGO was conceived in 1988 at the first meeting on genome mapping and sequencing at Cold Spring Harbor From a 42 scientists of 17 countries membership association HUGO has increased its membership base to over 1 800 members both established and aspiring of 87 countries after two decades HUGO has over the years played an essential role behind the scenes of the human genome project With its mission to promote international collaborative effort to study the human genome and the myriad issues raised by knowledge of the genome HUGO has had noteworthy successes in some of the less glamorous but nonetheless vital aspects of the human genome project As a truly international organisation HUGO is entering its 25th year of its history by making an inflection in its direction seeking the biological meaning of its information content To this end HUGO is focusing on the medical implications of genomic knowledge Moving forward HUGO is also working to enhance the genomic capabilities in the emerging countries of the world The excitement and interest in genomic sciences in Asia Middle East South America and Africa are palpable and the hope is that these technologies will help in national development and health The Human Variome Project works closely with HUGO on a number of projects and initiatives The most notable of these is the joint HGVS HVP HUGO Sequence Variant Description Committee The three organsiations have formed a collaborative group to update and mainain the internationally accepted Sequence Variant Nomenclature the HGVS Nomenclature Human Genome Variation Society http www hgvs org The HGVS

    Original URL path: http://www.humanvariomeproject.org/activities/collaborating-projects.html (2016-02-10)
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  • Work Products - Human Variome Project
    Activities Work Products Work Products HVP Standards Files 0 HVP Guidelines Files 2 Committees Councils Subcategories 4 Files 170 Policy Documents Files 9 Company Documents Files 6 ICO Files 12 Standards Development Process Subcategories 7 Files 21 Recommended System Status Files 11 Project Wide Initiatives Subcategories 2 Files 9 HVP Country Nodes Files 5 Membership Files 1 Powered by nbsp jDownloads Navigate Home About Activities Solutions Resources Meetings Blog Donate

    Original URL path: http://www.humanvariomeproject.org/activities/work-products.html (2016-02-10)
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  • Interest Groups - Human Variome Project
    Consortium members that have organised around a broad topic area to discuss debate and propose possible actions for the Human Variome Project to consider The topic of interest must be related to the collection and sharing of information on variation in the human genome and or capacity building ethical or educational activities related to of the Human Variome Project The purpose of an Interest Group is to review and to bring thought and debate to the chosen topic With a key purpose to initiate the creation of standards and guidelines where required by generating activity proposals the submission of a proposal to the International Scientific Advisory Committee will start the HVP Standards Development Process An Interest Group may also wish to generate and possibly publish relevant papers to further inform others Requirements A Human Variome Project Interest Group must commit to the Core Values of the Human Variome Project engage in activities in a spirit of cooperation tolerance and solidarity and each year the Chair of the Interest Group must provide the Scientific Advisory Committee a short written report of their activities Existing Interest Groups Database Accreditation Education Training Ethics Pathogenicity Phenotype Navigate Home About Activities Solutions Resources Meetings Blog

    Original URL path: http://www.humanvariomeproject.org/activities/interest-groups.html (2016-02-10)
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  • Publications - Human Variome Project
    J Kohonen Corish Jumana Y Al Aama Arleen D Auerbach Myles Axton Carol Isaacson Barash Inge Bernstein Christophe B A roud John Burn Fiona Cunningham Garry R Cutting Johan T Dunnen Marc S Greenblatt Jim Kaput Michael Katz Annika Lindblom Finlay Macrae Donna Maglott Gabriela M A slein Sue Povey Raj Ramesar Sue Richards Daniela Seminara Mar A a Jes Aºs Sobrido Sean Tavtigian Graham Taylor Mauno Vihinen Ingrid Winship and Richard G H Cotton How to catch all those mutations the report of the third Human Variome Project Meeting UNESCO Paris May 2010 Human Mutation 31 12 1374 1381 2010 URL Jim Kaput Chris Evelo Giuditta Perozzi Ben Ommen and Richard Cotton Connecting the Human Variome Project to nutrigenomics Genes and Nutrition 5 275 283 2010 URL Heather J Howard Ourania Horaitis Richard G H Cotton Mauno Vihinen Raymond Dalgleish Peter Robinson Anthony J Brookes Myles Axton Robert Hoffmann and Sylvie Tuffery Giraud The Human Variome Project HVP 2009 Forum Towards Establishing Standards Human Mutation 31 3 366 367 2010 URL Richard G H Cotton and Finlay A Macrae Reducing the burden of inherited disease the Human Variome Project The Medical Journal of Australia 192 11 628 629 2010 URL Jim Kaput Richard G H Cotton Lauren Hardman Michael Watson Aida Al I Aqeel Jumana Y Al Aama Fahd Al Mulla Santos Alonso Stefan Aretz Arleen D Auerbach Bharati Bapat Inge T Bernstein Jong Bhak Stacey L Bleoo Helmut Bl A cker Steven E Brenner John Burn Mariona Bustamante Rita Calzone Anne Cambon Thomsen Michele Cargill Paola Carrera Lawrence Cavedon Yoon Shin Cho Yeun Jun Chung Mireille Claustres Garry Cutting Raymond Dalgleish Johan T Dunnen Carlos D A az Steven Dobrowolski Rosàrio M N Santos Rosemary Ekong Simon B Flanagan Paul Flicek Yoichi Furukawa Maurizio Genuardi Ho Ghang Maria V Golubenko Marc S Greenblatt Ada Hamosh John M Hancock Ross Hardison Terence M Harrison Robert Hoffmann Rania Horaitis Heather J Howard Carol Isaacson Barash Neskuts Izagirre Jongsun Jung Toshio Kojima Sandrine Laradi Yeon Su Lee Jong Young Lee Vera L Gil da Silva Lopes Finlay A Macrae Donna Maglott Makia J Marafie Steven G E Marsh Yoichi Matsubara Ludwine M Messiaen Gabriela Möslein Mihai G Netea Melissa L Norton Peter J Oefner William S Oetting James C O Leary Ana Maria Oller Ramirez Mark H Paalman Jillian Parboosingh George P Patrinos Giuditta Perozzi Ian R Phillips Sue Povey Suyash Prasad Ming Qi David J Quin Rajkumar S Ramesar Sue C Richards Judith Savige Dagmar G Scheible Rodney J Scott Daniela Seminara Elizabeth A Shephard Rolf H Sijmons Timothy D Smith Mar A a Jes Aºs Sobrido Toshihiro Tanaka Sean V Tavtigian Graham R Taylor Jon Teague Thoralf Töpel Mollie Ullman Cullere Joji Utsunomiya Henk J Kranen Mauno Vihinen Elizabeth Webb Thomas K Weber Meredith Yeager Young I Yeom Seon Hee Yim and Hyang Sook Yoo Planning the Human Variome Project The Spain report Human Mutation 30 4 496 510 2009 URL Johan T Dunnen Rolf H Sijmons Paal

    Original URL path: http://www.humanvariomeproject.org/activities/publications.html (2016-02-10)
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