The Human Variome Project (HVP) 2009 Forum "Towards Establishing Standards".
Hum Mutat
; 31(3): 366-7, 2010 Mar.
Article
em En
| MEDLINE
| ID: mdl-20052753
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.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Genoma Humano
/
Polimorfismo de Nucleotídeo Único
Tipo de estudo:
Guideline
Limite:
Humans
Idioma:
En
Ano de publicação:
2010
Tipo de documento:
Article