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  • Work Products - Recommended System Status - Human Variome Project
    Initiatives Work Products Document Title Version License Document Status Release Date RSS007 Cafe Variome Application Version 1 0 CC BY SA 4 0 Published 2014 05 16 RSS006 VariO Application Version 1 0 CC BY SA 4 0 Published 2014 04 26 RSS005 Locus Reference Genome Sequence Format Application Version 1 0 CC BY SA 4 0 Published 2013 12 12 RSS002 Mutalyzer Reviewer Report Version 1 0 CC BY SA 4 0 Published 2013 12 12 RSS005 Locus Reference Genome Sequence Format Reviewer Report Version 1 0 CC BY SA 4 0 Published 2013 06 06 RSS003 LOVD Reviewer Report Version 1 0 CC BY SA 4 0 Published 2013 05 08 RSS004 VarioML Application Version 1 0 CC BY SA 4 0 Published 2013 04 04 RSS003 LOVD Application Version 1 0 CC BY SA 4 0 Published 2013 03 22 RSS002 Mutalyzer Application Version 1 0 CC BY SA 4 0 Published 2013 03 22 RSS001 HGVS Nomenclature Reviewer Reports Version 1 0 CC BY SA 4 0 Published 2013 03 22 RSS001 HGVS Nomenclature Application Version 1 0 CC BY SA 4 0 Published 2013 03 22 Powered by nbsp jDownloads Navigate Home About Activities Solutions

    Original URL path: http://www.humanvariomeproject.org/activities/work-products/recommended-system-status.html (2016-02-10)
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  • Work Products - Project Wide Initiatives - Human Variome Project
    Policy Documents ISAC Documents ICCAC Documents G DSDBAC Documents Position Papers Interest Groups Publications Home Activities Work Products Project Wide Initiatives Work Products Subcategories Global Globin 2020 Challenge Files 8 BRCA Challenge Files 1 No files available yet for this category Powered by nbsp jDownloads 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

    Original URL path: http://www.humanvariomeproject.org/activities/work-products/project-wide-initiatives.html (2016-02-10)
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  • Work Products - Membership - Human Variome Project
    Documents ISAC Documents ICCAC Documents G DSDBAC Documents Position Papers Interest Groups Publications Home Activities Work Products HVP Standards Work Products Document Title Version License Document Status Release Date Institutional Member Application Form CC BY SA 4 0 Published 2016 01 28 Powered by nbsp jDownloads Navigate Home About Activities Solutions Resources Meetings Blog Donate Members Login More Sitemap Privacy Policy Search Login Contact Us Contact the International Coordinating Office

    Original URL path: http://www.humanvariomeproject.org/viewcategory/29.html (2016-02-10)
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  • Ensuring the Free and Open Sharing of Published Variant Data - A Statement by the Human Variome Project Consortium - Blog - Human Variome Project
    some journals will be unable to impose all aspects of this statement Sequence Variant Description All manuscripts must include HUGO Gene Nomenclature Committee HGNC approved gene symbols http www genenames org for the genes for which variant data are presented If appropriate symbols do not exist they should be obtained from the HGNC prior to submission Commonly used alternative gene aliases may also be reported but must not be used alone in place of the HGNC symbol Variants should be described using the Human Genome Variation Society HGVS nomenclature den Dunnen and Antonarakis 2000 Hum Mutat 15 7 12 The most current guidelines are summarized on the Mutation Nomenclature Homepage at the HGVS website http www hgvs org mutnomen Examples of acceptable nomenclature are provided on that site and the rationale for insisting on the use of the nomenclature has been clearly stated den Dunnen and Paalman 2003 Hum Mutat 22 181 182 An update to the mutation nomenclature was recently published regarding complex rearrangements Taschner and den Dunnen 2011 Hum Mutat 32 507 511 Important considerations include Authors should check sequence variant descriptions using an automated tool such as the Mutalyzer program Wildeman et al 2008 Hum Mutat 29 6 13 http www LOVD nl mutalyzer Curated genomic reference sequences Locus Reference Genomic or GenBank RefSeqGene should be used where available Accession numbers of reference sequences including the version number where relevant e g LRG 1 or NG 007400 1 should be stated in the Materials and Methods section and as a footnote in tables listing variants Variants should be defined in the text and tables using both DNA and protein level descriptions whenever appropriate If alternative nomenclature schemes are commonly found in the literature they may be used in addition to HGVS nomenclature but they must be defined clearly Variants may be described using dbSNP identifiers e g rs123456 A G Pre Publication Deposition of Sequence Variants Authors must submit all variants included in an article to the relevant gene disease specific database prior to the manuscript being accepted for publication Catalogues of relevant databases can be obtained from the Human Genome Variation Society web site http www hgvs org dblist dblist html and the GEN2PHEN web site http www gen2phen org data lsdb Journals should clearly state in their author instructions that prior submission of data to a database is no bar to acceptance of a submitted manuscript Important considerations include Authors should confirm the status of database submission in their cover letter Authors should note in the manuscript e g in the Materials and Methods section the databases to which they have submitted their variants and provide the URL s Where more than one LSDB exists for a given gene the authors may choose which database to submit their variant data to Factors influencing the choice might include the number of entries already in the database evidence that the database is being actively curated and whether the database complies with published Human Variome Project Standards and

    Original URL path: http://www.humanvariomeproject.org/blog/ensuring-the-free-and-open-sharing-of-published-variant-data-a-statement-by-the-human-variome-project-consortium.html (2016-02-10)
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  • Human Variome Project Networking Event @ ASHG | Special HVP Meetings | HVP Meetings & Events | special - Human Variome Project
    Baltimore Great So is the Human Variome Project Come along to the Potomac Room of the Sheraton Inner Harbour Hotel at 7pm local time 11pm UTC GMT on Thursday 8 October to meet other Human Variome Project Consortium members in a fun and social environment And who can say no to free food and drinks RSVP online Navigate Home About Activities Solutions Resources Meetings Blog Donate Members Login More Sitemap

    Original URL path: http://www.humanvariomeproject.org/special/special/human-variome-project-networking-event-ashg.html (2016-02-10)
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  • 13th International Symposium on Mutation in the Genome: detection, genome sequencing & interpretation | HVP Scientific Meetings | HVP Meetings & Events | scientific - Human Variome Project
    attending this important event you will Hear presentations by renowned speakers Share your knowledge and ideas Engage and learn in a relaxed environment Access six networking functions Meet with key technology providers The first meetings in this series starting in 1991 in Oxford focussed on methodology developed to find mutations variants in DNA When we fast forward on 25 years we find cheaper and cheaper methods being used to do the same more sensitive more effective and ever faster Over the years we have seen new technologies emerging to a analyze the output from the sequences b assign pathogenicity to variants c databasing d pre conception testing and e personal genomes As a consequence the content of the meeting series and the interest of the participants has moved in the same direction The meeting aims to present the latest developments in the field the best methodologies for scanning sequencing bio informatic analysis and functional testing The meeting will be presented in plenary format with notable invited speakers and invited abstracts after peer review The meeting will include Workshops on themes related to NGS pipelines and analysis data collection and variation nomenclature I therefore invite you to submit your abstracts as

    Original URL path: http://www.humanvariomeproject.org/scientific/scientific/13th-international-symposium-on-mutation-in-the-genome-detection-genome-sequencing-interpretation.html (2016-02-10)
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  • Collection of Human Gene Variation - 2008 Philadelphia Forum | HVP Fora | HVP Meetings & Events | fora - Human Variome Project
    Genome Variation Society s 11 Nov annual meetings High profile speakers have been and will be chosen to provide you with up to date information on the projects of the Human Variome Project There will be ample time in the programme for open discussion The meeting will provide a good opportunity for you to share your experiences and ideas with your colleagues and has been designed to maximize exposure of the field with an emphasis on single gene disorder where the need is most on the clinical level to the various systems available and planned to enhance cross collaboration and avoid unnecessary work and expense 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 Information about the Human Variome Project and the intense Planning Meeting that was held in Barcelona Spain in May 2008 may be found at http www humanvariomeproject org We hope that you are able to attend There will be a discounted registration fee for delegates choosing to also attend the Human Genome Variation Society meeting Clinical Genetics Human Genome Variation on the 11th Nov http www hgvs org

    Original URL path: http://www.humanvariomeproject.org/meetings/fora/collection-of-human-gene-variation-2008-philadelphia-forum.html (2016-02-10)
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  • Towards Establishing Standards - 2009 Vienna Forum | HVP Fora | HVP Meetings & Events | fora - Human Variome Project
    European Society of Human Genetics Annual Meeting 23 26 May 2009 and the Human Genome Variation Society s 23rd May meeting in the same venue High profile speakers have been and will be chosen to provide you with up to date information about Variation Nomenclature Standards of the Human Variome Project There will be ample time in the programme for open discussion The meeting will provide a good opportunity for you to share your experiences and ideas with your colleagues and has been designed to maximize exposure of the field with an emphasis on single gene disorder where the need is most on the clinical level to the various systems available and planned to enhance cross collaboration and avoid unnecessary work and expense 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 Information about the Human Variome Project and the intense Planning Meeting that was held in Barcelona Spain in May 2008 may be found at http www humanvariomeproject org and published in the Open Access article in Human Mutation Navigate Home About Activities Solutions Resources Meetings Blog Donate Members Login More

    Original URL path: http://www.humanvariomeproject.org/meetings/fora/towards-establishing-standards-2009-vienna-forum.html (2016-02-10)
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