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Your search keyword '"Greenblatt, M.S."' showing total 3 results
Start Over Author "Greenblatt, M.S." Topic 0302 clinical medicine
3 results on '"Greenblatt, M.S."'

1. HGVS Recommendations for the Description of Sequence Variants: 2016 Update

Author

Dunnen, J.T. den, Dalgleish, R., Maglott, D.R., Hart, R.K., Greenblatt, M.S., McGowan-Jordan, J., Roux, A.F., Smith, T., Antonarakis, S.E., Taschner, P.E.M., HGVS, HVP, Human Genome Org HUGO, Department of Human Genetics, Leiden University Medical Center (LUMC), Department of Genetics [Leicester], University of Leicester, National Center for Biotechnology Information (NCBI), Laboratoire de génétique des maladies rares. Pathologie moleculaire, etudes fonctionnelles et banque de données génétiques (LGMR), IFR3, Université Montpellier 1 (UM1)-Université Montpellier 1 (UM1)-Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Department of Genetic Medicine and Development [Geneva], Université de Genève (UNIGE), and Center for Human and Clinical Genetics

Subjects
0301 basic medicine, sequence variation, [SDV]Life Sciences [q-bio], Human Variome Project, Guidelines as Topic, Variation (game tree), Biology, Bioinformatics, Genome, Standard procedure, 03 medical and health sciences, 0302 clinical medicine, Terminology as Topic, Human Genome Project, Genetics, Humans, ddc:576.5, Sequence variation, Genetics (clinical), database, Sequence, Information retrieval, Genome, Human, HGVS version, Genetic Variation, Sequence Analysis, DNA, 030104 developmental biology, 030220 oncology & carcinogenesis, standards, Human genome, nomenclature, mutation
Abstract

International audience; The consistent and unambiguous description of sequence variants is essential to report and exchange information on the analysis of a genome. In particular, DNA diagnostics critically depends on accurate and standardized description and sharing of the variants detected. The sequence variant nomenclature system proposed in 2000 by the Human Genome Variation Society has been widely adopted and has developed into an internationally accepted standard. The recommendations are currently commissioned through a Sequence Variant Description Working Group (SVD-WG) operating under the auspices of three international organizations: the Human Genome Variation Society (HGVS), the Human Variome Project (HVP), and the Human Genome Organization (HUGO). Requests for modifications and extensions go through the SVD-WG following a standard procedure including a community consultation step. Version numbers are assigned to the nomenclature system to allow users to specify the version used in their variant descriptions. Here, we present the current recommendations, HGVS version 15.11, and briefly summarize the changes that were made since the 2000 publication. Most focus has been on removing inconsistencies and tightening definitions allowing automatic data processing. An extensive version of the recommendations is available online, at http://www.HGVS.org/varnomen

Published
2016
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2. Mutation (variation) databases and registries: a rationale for coordination of efforts

Author

Auerbach, A.D., Burn, J., Cassiman, J.J., Claustres, M., Cotton, R.G.H., Cutting, G., Dunnen, J.T. den, El-Ruby, M., Vargas, A.F., Greenblatt, M.S., Macrae, F., Matsubara, Y., Rimoin, D.L., Vihinen, M., Broeckhoven, C. van, Human Variome Project, Department of Clinical Genetics/EMGO Institute for Health and Care research, Laboratoire de génétique des maladies rares. Pathologie moleculaire, etudes fonctionnelles et banque de données génétiques (LGMR), IFR3, Université Montpellier 1 (UM1)-Université Montpellier 1 (UM1)-Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), United Kingdom Met Office [Exeter], Johns Hopkins University School of Medicine [Baltimore], Department of Human Genetics, Leiden University Medical Center (LUMC), Department of Colorectal Medicine and Genetics, The Royal Melbourne Hospital, Medical Genetics Institute, Department of Experimental Medical Science, Lund University [Lund], Neurodegenerative Brain Diseases Group, and VIB

Subjects
[SDV]Life Sciences [q-bio], Human Variome Project, Developing country, computer.software_genre, 03 medical and health sciences, Annotation, 0302 clinical medicine, Resource (project management), Databases, Genetic, Genetics, Humans, Medicine, Relevance (information retrieval), Biology, Molecular Biology, ComputingMilieux_MISCELLANEOUS, Genetics (clinical), 030304 developmental biology, 0303 health sciences, Database, business.industry, Biobank, 3. Good health, Incentive, Mutation (genetic algorithm), Human medicine, business, computer, 030217 neurology & neurosurgery
Abstract

Here we argue that coor-dination of international efforts for develop -ing comprehensive mutation databases and patient phenotype registries is essential for optimal genetic health care.Well-funded international efforts for set -ting up mutation databases or registries are crucial for several reasons. Many variants that are found during clinical testing world-wide are not submitted to databases, where they could form an important resource for patient care. Many laboratories and clini-cians do not have the capacity or incentive to submit data to databases. This is espe-cially the case in developing countries owing mainly to technical insufficiency, lack of public awareness, lack of international com -munications, the absence of the concept of DNA biobanking, national authority restric -tions and lack of translation from original languages to English. The Human Variome Project (HVP) was initiated to facilitate the collection of all variants in all genes from all countries and to include annotation of these variants for pathogenicity and relevance to clinical medicine

Published
2011
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3. How to catch all those mutations--the report of the third Human Variome Project Meeting, UNESCO Paris, May 2010

Author

Kohonen-Corish, M.R.J., Al-Aama, J.Y., Auerbach, A.D., Axton, M., Barash, C.I., Bernstein, I., Beroud, C., Burn, J., Cunningham, F., Cutting, G.R., Dunnen, J.T. den, Greenblatt, M.S., Kaput, J., Katz, M., Lindblom, A., Macrae, F., Maglott, D., Moslein, G., Povey, S., Ramesar, R., Richards, S., Seminara, D., Sobrido, M.J., Tavtigian, S., Taylor, G., Vihinen, M., Winship, I., Cotton, R.G.H., Contributors Human Variome Project, HNPCC-register, Hvidovre Hospital, University of Copenhagen = Københavns Universitet (KU), Laboratoire de génétique des maladies rares. Pathologie moleculaire, etudes fonctionnelles et banque de données génétiques (LGMR), Université Montpellier 1 (UM1)-IFR3, Université Montpellier 1 (UM1)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), European Bioinformatics Institute [Hinxton] (EMBL-EBI), EMBL Heidelberg, McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University (JHU), Metabolic Unit, Dept Clinical Chemistry, University of Vermont College of Medicine, University of Vermont [Burlington], University of Massachusetts [Amherst] (UMass Amherst), University of Massachusetts System (UMASS), Department of Clinical Genetics, Karolinska University Hospital [Stockholm], Department of Colorectal Medicine and Genetics, The Royal Melbourne Hospital, National Center for Biotechnology Information (NCBI), Dept of Genetics, Evolution and Environment [London] (UCL-GEE), University College of London [London] (UCL), National Cancer Institute [Bethesda] (NCI-NIH), National Institutes of Health [Bethesda] (NIH), Fundacion Publica Galega de Medicina Xenomica, Fundación Pública Galega de Medicina Xenómica, Department of Oncological Sciences, University of Utah-Huntsman Cancer Institute, Imperial College London, Department of Experimental Medical Science, Lund University [Lund], University of Copenhagen = Københavns Universitet (UCPH), IFR3, and Université Montpellier 1 (UM1)-Université Montpellier 1 (UM1)-Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM)

Subjects
education, Human Variome Project, Library science, Human genetic variation, Biology, computer.software_genre, Article, 03 medical and health sciences, 0302 clinical medicine, Health care, Genetics, Genetics (clinical), 030304 developmental biology, 0303 health sciences, Data collection, business.industry, [SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, 3. Good health, Variome, Incentive, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, 030220 oncology & carcinogenesis, Sustainability, [INFO.INFO-BI]Computer Science [cs]/Bioinformatics [q-bio.QM], business, computer, Data integration
Abstract

International audience; The third Human Variome Project (HVP) Meeting "Integration and Implementation" was held under UNESCO Patronage in Paris, France, at the UNESCO Headquarters May 10-14, 2010. The major aims of the HVP are the collection, curation, and distribution of all human genetic variation affecting health. The HVP has drawn together disparate groups, by country, gene of interest, and expertise, who are working for the common good with the shared goal of pushing the boundaries of the human variome and collaborating to avoid unnecessary duplication. The meeting addressed the 12 key areas that form the current framework of HVP activities: Ethics; Nomenclature and Standards; Publication, Credit and Incentives; Data Collection from Clinics; Overall Data Integration and Access-Peripheral Systems/Software; Data Collection from Laboratories; Assessment of Pathogenicity; Country Specific Collection; Translation to Healthcare and Personalized Medicine; Data Transfer, Databasing, and Curation; Overall Data Integration and Access-Central Systems; and Funding Mechanisms and Sustainability. In addition, three societies that support the goals and the mission of HVP also held their own Workshops with the view to advance disease-specific variation data collection and utilization: the International Society for Gastrointestinal Hereditary Tumours, the Micronutrient Genomics Project, and the Neurogenetics Consortium.

Published
2010
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