archive-org.com » ORG » H » HUMANVARIOMEPROJECT.ORG

Total: 385

Choose link from "Titles, links and description words view":

Or switch to "Titles and links view".
  • Standards and Guidelines under Development - Human Variome Project
    a Genetic Variant 1099 2013 01 21 Marc Greenblatt ISAC Timothy D Smith WG03 Minimal content for gene variant databases LSDBs 2020 2013 03 15 Peter Taschner ISAC Timothy D Smith WG04 Sequence variant description committee 2020 2013 10 25 Johan den Dunnen ISAC Timothy D Smith WG06 Disease Phenotype Descriptions in Gene Disease Specific Databases 1099 2014 03 07 Peter Robinson G DSDBAC Timothy D Smith WG07 Minimum Content of a Country Specific Variant Database 1099 2014 05 23 Martina Witsch Baumgartner ICCAC Timothy D Smith WG08 Ethics Checklist for Gene Disease Specific Database Curators and Submitters 1099 2014 08 11 Rosemary Ekong G DSDBAC Timothy D Smith Stage Codes 10 Registration 20 Preparatory Action 50 Main Activity Begun 80 Main Activity Complete 91 Repeat Earlier Stage 92 Repeat Current Stage 98 Abandon 99 Proceed 00 Initiation Stage AP Receieved by ICO ICO forwards AP with comments to International Scientific Advisory Committee ISAC determines which body will act as SC ISAC determination complete AP referred to SC 10 Proposal Stage SC Registers AP AP sent to all SC members SC votes on AP Voting complete AP reffered back to submitter for refinement AP rejected Working Group chartered 20 Preparatory Stage Working Group convened Outline and Schedule of Work submitted First WD begun WG vote to accept WD Further WD required WG disbanded WD approved as ED 30 Consultation Stage ED registered by ICO ED edited by ICO Consulation Period begun Consultation finished WG to address issues raised during consultation ED accepted 40 Approval Stage ED and WG response to comments received Vote scheduled SC vote to approve publication Voting complete WG to address issues raised by SC Project Abandoned Draft approved for publication 50 Final Approval Stage ISAC receive approved draft Vote scheduled ISAC vote to give final approval

    Original URL path: http://www.humanvariomeproject.org/solutions/standards-and-guidelines-under-development.html (2016-02-10)
    Open archived version from archive


  • Recommended Systems - Human Variome Project
    currently being utilised the HVP Standards and Guidelines the system is compliant with and the access and license terms and conditions under which the system is made available All applications should consist of no more than two pages and must be emailed to This email address is being protected from spambots You need JavaScript enabled to view it Applicants are encouraged to suggest up to three potential reviewers for their application Recommended Systems System Process or Tool Application Submitted By Submitted Date Date Approved Reviewer Reports RSS002 Mutalyzer Peter Taschner 2012 07 05 2013 12 12 RSS005 Locus Reference Genomic sequence format Raymond Dalgleish 2013 06 06 2013 12 12 RSS003 LOVD Peter Taschner 2012 07 05 2013 05 08 RSS001 HGVS Nomenclature Peter Taschner 2012 07 05 2013 05 08 Applications under Review System Process or Tool Application Submitted By Submitted Date ICO Liaison Status RSS004 VarioML variant data exchange format Raymond Dalgleish 2013 03 07 This email address is being protected from spambots You need JavaScript enabled to view it Under Review RSS006 VariO Mauno Vihinen 2014 04 26 This email address is being protected from spambots You need JavaScript enabled to view it Under Review RSS007 Cafe Variome Owen Lancaster 2014 05 16 This email address is being protected from spambots You need JavaScript enabled to view it Under Review Information for Reviewers As well as an indication of compliance with Human Variome Project Standards and Guidelines Recommended System Status is an indication of the system s usability reliability and uptake In order to gain as wide as possible perspective on these issues the Human Variome Project places a strong weight on the views of the human genomics and genetics community To provide guidance on community views the International Scientfic Advisory Committee will invite at least three

    Original URL path: http://www.humanvariomeproject.org/solutions/recommended-systems.html (2016-02-10)
    Open archived version from archive

  • Genetics and Genomics Journals - Human Variome Project
    Research Genetic Toxicology and Environmental Mutagenesis 10 2015 Mutation Research Reviews 10 2015 Nature 10 2015 Nature Biotechnology 10 2015 Nature Cell Biology 10 2015 Nature Genetics 10 2015 Nature Immunology 10 2015 Nature Medicine 10 2015 Nature Reviews Cancer 10 2015 Nature Reviews Drug Discovery 10 2015 Nature Reviews Genetics 10 2015 Nature Reviews Immunology 10 2015 Nature Reviews Microbiology 10 2015 Nature Reviews Molecular Cell Biology 10 2015 Nature Reviews Neuroscience 10 2015 Nature Structural Molecular Biology 10 2015 Neurogenetics 10 2015 Neuromuscular Disorders 10 2015 Neuron 10 2015 New England Journal of Medicine 10 2015 Nucleic Acids Research NAR 10 2015 Oncogene 10 2015 Open Longevity Science 10 2015 Orphanet Journal of Rare Diseases 10 2015 Parasite Immunology 10 2015 Pharmacogenetics and Genomics 10 2015 Physiological Genomics 10 2015 PLoS Biology 10 2015 PLoS Computational Biology 10 2015 PLoS Genetics 10 2015 PLoS Medicine 10 2015 PLoS Neglected Tropical Diseases 10 2015 PLoS One 10 2015 PLoS Pathogens 10 2015 Proceedings of the National Academy of Sciences USA PNAS 10 2015 Psychiatric Genetics 10 2015 Public Health Genomics 10 2015 Radiation Research 10 2015 Scandinavian Journal of Immunology 10 2015 Science 10 2015 The Anatomical Record 10 2015 The EMBO Journal 10 2015 The FEBS Journal 10 2015 The Lancet 12 2014 The Open Bioinformatics Journal 12 2014 The Open Biomaterials Journal 12 2014 The Open Bone Journal 12 2014 The Open Enzyme Inhibition Journal 12 2014 Trends in Biochemical Sciences TIBS 12 2014 Trends in Biotechnology 12 2014 Trends in Cell Biology 12 2014 Trends in Genetics TIG 10 2015 Trends in Immunology 10 2015 Trends in Molecular Medicine 10 2015 Trends in Neurosciences 10 2015 Information for Journal Editors Journal editors that wish to modify their author instructions are free to use and adapt the following example Gene symbols and OMIM numbers All manuscripts must include HGNC approved gene symbols http www genenames org and OMIM database reference numbers http www omim org for human genes and or disorders Gene symbols may be requested for loci for which no symbol exists using the Gene symbol request form http www genenames org cgi bin request In addition commonly used alternative gene and disease symbols may also be used in the abstract and as key words Note OMIM entries now clearly indicate the current HGNC approved gene symbol but it may not be listed in the main title In addition there are separate OMIM numbers for diseases and genes and they are not to be used interchangeably Genome Sequence Variants Because of the importance of the issue and the general consensus on the rules insert journal name is adopting an editorial policy that requires absolute compliance with the rules to describe chromosomal and gene sequence variants before manuscripts will be accepted and published When referring to an alteration to the genome the term variant is preferred to mutation Cutting 2014 Am J Hum Genet 4 5 10 Mutation may be used when referring to the process by

    Original URL path: http://www.humanvariomeproject.org/resources/genetics-and-genomics-journals.html (2016-02-10)
    Open archived version from archive

  • HVP Biennial Meetings | HVP Meetings & Events | biennial-meetings - Human Variome Project
    Inauguration 25 May 2008 HVP2 Planning 10 May 2010 HVP3 Implementation and Integration 11 Jun 2012 HVP4 The 4th Biennial Meeting of the Human Variome Project Consortium 20 May 2014 HVP5 5th Biennial Meeting of the Human Variome Project Consortium Navigate Home About Activities Solutions Resources Meetings Blog Donate Members Login More Sitemap Privacy Policy Search Login Contact Us Contact the International Coordinating Office Human Variome Project International Ltd Level

    Original URL path: http://www.humanvariomeproject.org/past-meetings/biennial.html (2016-02-10)
    Open archived version from archive

  • Special HVP Meetings | HVP Meetings & Events | special - Human Variome Project
    HVP Fora Project wide Initiatives Home Meetings Special HVP Meetings Special HVP Meetings 8 Oct 2015 Human Variome Project Networking Event ASHG Navigate Home About Activities Solutions Resources Meetings Blog Donate Members Login More Sitemap Privacy Policy Search Login Contact Us Contact the International Coordinating Office Human Variome Project International Ltd Level 1 200 Berkeley Street University of Melbourne Victoria Australia P 61 3 9035 9519 E info variome org

    Original URL path: http://www.humanvariomeproject.org/past-meetings/special.html (2016-02-10)
    Open archived version from archive

  • HVP Scientific Meetings | HVP Meetings & Events | scientific - Human Variome Project
    wide Initiatives Home Meetings HVP Scientific Meetings HVP Scientific Meetings 27 Apr 2015 13th International Symposium on Mutation in the Genome detection genome sequencing interpretation Navigate Home About Activities Solutions Resources Meetings Blog Donate Members Login More Sitemap Privacy Policy Search Login Contact Us Contact the International Coordinating Office Human Variome Project International Ltd Level 1 200 Berkeley Street University of Melbourne Victoria Australia P 61 3 9035 9519 E

    Original URL path: http://www.humanvariomeproject.org/past-meetings/scientific.html (2016-02-10)
    Open archived version from archive

  • HVP Fora | HVP Meetings & Events | fora - Human Variome Project
    2009 Spotlight on Neurogenetics 2009 Hawaii Forum 1 Nov 2010 Human Variome Project Educational Strategy Meeting 2010 Washington Forum 14 Nov 2010 Understanding Human Variation 28 May 2011 Disease Specific Databases why do we need them Amsterdam 2011 Forum 11 Oct 2011 Neurogenetics Consortium Meeting 6 Nov 2012 Getting Ready for The Human Phenome Project Navigate Home About Activities Solutions Resources Meetings Blog Donate Members Login More Sitemap Privacy Policy

    Original URL path: http://www.humanvariomeproject.org/past-meetings/fora.html (2016-02-10)
    Open archived version from archive

  • Project-wide Initiatives | HVP Meetings & Events | project-wide-initiatives - Human Variome Project
    HVP Fora Project wide Initiatives BRCA Challenge Global Globin 2020 Challenge Home Meetings Project wide Initiatives There are no events under this category Navigate Home About Activities Solutions Resources Meetings Blog Donate Members Login More Sitemap Privacy Policy Search Login Contact Us Contact the International Coordinating Office Human Variome Project International Ltd Level 1 200 Berkeley Street University of Melbourne Victoria Australia P 61 3 9035 9519 E info variome

    Original URL path: http://www.humanvariomeproject.org/project-wide-initiatives/project-wide-initiatives/hvp/ (2016-02-10)
    Open archived version from archive



  •