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

Howard, Heather J; Horaitis, Ourania; Cotton, Richard G H; Vihinen, Mauno LU ; Dalgleish, Raymond; Robinson, Peter; Brookes, Anthony J; Axton, Myles; Hoffmann, Robert and Tuffery-Giraud, Sylvie (2010) In Human Mutation 31(3). p.366-367
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.
Please use this url to cite or link to this publication:
author
publishing date
type
Contribution to journal
publication status
published
subject
keywords
Genomics: standards
in
Human Mutation
volume
31
issue
3
pages
366 - 367
publisher
John Wiley & Sons
external identifiers
  • pmid:20052753
  • scopus:77149123603
ISSN
1059-7794
DOI
10.1002/humu.21175
language
English
LU publication?
no
id
c91cce9f-e4e6-4e7e-a8d4-c9d9f845d667 (old id 3634734)
alternative location
http://www.ncbi.nlm.nih.gov/pubmed/20052753?dopt=Abstract
date added to LUP
2013-06-12 20:42:23
date last changed
2018-05-29 11:47:05
@article{c91cce9f-e4e6-4e7e-a8d4-c9d9f845d667,
  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.},
  author       = {Howard, Heather J and Horaitis, Ourania and Cotton, Richard G H and Vihinen, Mauno and Dalgleish, Raymond and Robinson, Peter and Brookes, Anthony J and Axton, Myles and Hoffmann, Robert and Tuffery-Giraud, Sylvie},
  issn         = {1059-7794},
  keyword      = {Genomics: standards},
  language     = {eng},
  number       = {3},
  pages        = {366--367},
  publisher    = {John Wiley & Sons},
  series       = {Human Mutation},
  title        = {The Human Variome Project (HVP) 2009 Forum "Towards Establishing Standards".},
  url          = {http://dx.doi.org/10.1002/humu.21175},
  volume       = {31},
  year         = {2010},
}