Literature DB >> 20052753

The Human Variome Project (HVP) 2009 Forum "Towards Establishing Standards".

Heather J Howard1, Ourania Horaitis, Richard G H Cotton, Mauno Vihinen, Raymond Dalgleish, Peter Robinson, Anthony J Brookes, Myles Axton, Robert Hoffmann, Sylvie Tuffery-Giraud.   

Abstract

The May 2009 Human Variome Project (HVP) Forum "Towards Establishing Standards" was a round table discussion attended by delegates from groups representing international efforts aimed at standardizing several aspects of the HVP: mutation nomenclature, description and annotation, clinical ontology, means to better characterize unclassified variants (UVs), and methods to capture mutations from diagnostic laboratories for broader distribution to the medical genetics research community. Methods for researchers to receive credit for their effort at mutation detection were also discussed. (c) 2010 Wiley-Liss, Inc.

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Year:  2010        PMID: 20052753     DOI: 10.1002/humu.21175

Source DB:  PubMed          Journal:  Hum Mutat        ISSN: 1059-7794            Impact factor:   4.878


  4 in total

1.  SPOT: a web-based tool for using biological databases to prioritize SNPs after a genome-wide association study.

Authors:  Scott F Saccone; Raphael Bolze; Prasanth Thomas; Jiaxi Quan; Gaurang Mehta; Ewa Deelman; Jay A Tischfield; John P Rice
Journal:  Nucleic Acids Res       Date:  2010-06-06       Impact factor: 16.971

2.  Taxonomizing, sizing, and overcoming the incidentalome.

Authors:  Isaac S Kohane; Michael Hsing; Sek Won Kong
Journal:  Genet Med       Date:  2012-02-09       Impact factor: 8.822

3.  Gut Pharmacomicrobiomics: the tip of an iceberg of complex interactions between drugs and gut-associated microbes.

Authors:  Rama Saad; Mariam R Rizkallah; Ramy K Aziz
Journal:  Gut Pathog       Date:  2012-11-30       Impact factor: 4.181

4.  Variation ontology: annotator guide.

Authors:  Mauno Vihinen
Journal:  J Biomed Semantics       Date:  2014-02-17
  4 in total

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