人类变异组计划（HVP）2009 论坛“建立标准”。

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

机构信息

Genomic Disorders Research Centre, Carlton South, Victoria, Australia.

出版信息

Hum Mutat. 2010 Mar;31(3):366-7. doi: 10.1002/humu.21175.

PMID: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.

摘要

2009 年 5 月人类变异组计划（HVP）论坛“建立标准”是一次圆桌讨论会议，代表了旨在标准化 HVP 几个方面的国际努力的团体代表出席了会议：突变命名、描述和注释、临床本体论、更好地描述未分类变异（UV）的方法，以及从诊断实验室捕获突变以更广泛地分发给医学遗传学研究社区的方法。还讨论了研究人员在突变检测方面获得认可的方法。