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:
https://lup.lub.lu.se/record/3634734
- author
- 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
- publishing date
- 2010
- 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 Inc.
- 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
- 2016-04-04 08:18:33
- date last changed
- 2022-01-29 03:21:18
@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}},
keywords = {{Genomics: standards}},
language = {{eng}},
number = {{3}},
pages = {{366--367}},
publisher = {{John Wiley & Sons Inc.}},
series = {{Human Mutation}},
title = {{The Human Variome Project (HVP) 2009 Forum "Towards Establishing Standards".}},
url = {{http://dx.doi.org/10.1002/humu.21175}},
doi = {{10.1002/humu.21175}},
volume = {{31}},
year = {{2010}},
}