Journal ArticleDOI
Recommendations of the 2006 Human Variome Project meeting.
Richard G.H. Cotton,Appelbe W,Arleen D. Auerbach,Kevin G. Becker,Walter F. Bodmer,Boone Dj,Boulyjenkov,Samir K. Brahmachari,Larry Brody,Anthony J. Brookes,AF Brown,Peter H. Byers,José María Cantú,Jean Jacques Cassiman,Mireille Claustres,Patrick Concannon,den Dunnen Jt,Paul Flicek,Richard A. Gibbs,Judith G. Hall,Hasler J,Michael Katz,Pui-Yan Kwok,Sandrine Laradi,Annika Lindblom,Donna Maglott,Sge Marsh,Collen Masimirembwa,Shinsei Minoshima,de Ramirez Am,Roberta A Pagon,Rajkumar Ramesar,David Ravine,Sue Richards,David L. Rimoin,Ring Hz,Scriver Cr,Sherry S,Nobuyoshi Shimizu,Lincoln Stein,Ghazi O. Tadmouri,Graham R. Taylor,Michael S. Watson +42 more
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TLDR
The background of the project, the meeting and its recommendations, which addressed all areas of human genetics relevant to collection of information on variation and its effects, are summarized.Abstract:
Lists of variations in genomic DNA and their effects have been kept for some time and have been used in diagnostics and research Although these lists have been carefully gathered and curated, there has been little standardization and coordination, complicating their use Given the myriad possible variations in the estimated 24,000 genes in the human genome, it would be useful to have standard criteria for databases of variation Incomplete collection and ascertainment of variants demonstrates a need for a universally accessible system These and other problems led to the World Heath Organization–cosponsored meeting on June 20–23, 2006 in Melbourne, Australia, which launched the Human Variome Project This meeting addressed all areas of human genetics relevant to collection of information on variation and its effects Members of each of eight sessions (the clinic and phenotype, the diagnostic laboratory, the research laboratory, curation and collection, informatics, relevance to the emerging world, integration and federation and funding and sustainability) developed a number of recommendations that were then organized into a total of 96 recommendations to act as a foundation for future work worldwide Here we summarize the background of the project, the meeting and its recommendationsread more
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The promise of whole-exome sequencing in medical genetics.
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Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker
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The infevers autoinflammatory mutation online registry: Update with new genes and functions
Florian Milhavet,Laurence Cuisset,Hal M. Hoffman,Rima Slim,Hatem El-Shanti,Ivona Aksentijevich,Suzanne Lesage,Hans R. Waterham,Carol Wise,Cyril Sarrauste De Menthiere,Isabelle Touitou +10 more
TL;DR: Infevers (Internet Fevers), a website dedicated to mutations responsible for hereditary autoinflammatory diseases, was created in 2002 and has continued to evolve, and its new design will lead to a more comprehensive comparative analysis and interpretation of auto‐inflammatory sequence variants.
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A wiki for the life sciences where authorship matters
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References
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Human Variome Project: an international collaboration to catalogue human genetic variation.
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