Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA.
Hum Mutat. 2013 Jun;34(6):915-9. doi: 10.1002/humu.22306. Epub 2013 Apr 2.
The 2012 International Standards for Cytogenomic Arrays (ISCA) Consortium Meeting, "Towards a Universal Clinical Genomic Database," was held in Bethesda, Maryland, May 21-22, 2012, and was attended by over 200 individuals from around the world representing clinical genetic testing laboratories, clinicians, academia, industry, research, and regulatory agencies. The scientific program centered on expanding the current focus of the ISCA Consortium to include the collection and curation of both structural and sequence-level variation into a unified clinical genomics database, available to the public through resources such as the National Center for Biotechnology Information's ClinVar database. Here, we provide an overview of the conference, with summaries of the topics presented for discussion by over 25 different speakers. Presentations are available online at www.iscaconsortium.org.
2012 年国际细胞遗传学芯片标准（ISCA）联盟会议，“迈向通用临床基因组数据库”，于 2012 年 5 月 21 日至 22 日在马里兰州贝塞斯达举行，来自世界各地的 200 多名代表参加了会议，他们代表临床遗传检测实验室、临床医生、学术界、工业界、研究和监管机构。科学计划的重点是扩大 ISCA 联盟目前的重点，将结构和序列水平的变异纳入一个统一的临床基因组数据库，通过国家生物技术信息中心的 ClinVar 数据库等资源向公众提供。在这里，我们提供会议的概述，总结了 25 多位不同发言人提出的讨论主题。演示文稿可在 www.iscaconsortium.org 上查阅。
