Towards a Universal Clinical Genomics Database: the 2012 International Standards for Cytogenomic Arrays Consortium Meeting.
Towards a Universal Clinical Genomics Database: the 2012 International Standards for Cytogenomic Arrays Consortium Meeting.
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DOI：
10.1002/humu.22306
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发表时间：
2013-06
期刊：
影响因子：
3.9
通讯作者：
Faucett, W. Andrew
中科院分区：
文献类型：
--
作者：
Riggs, Erin Rooney;Wain, Karen E.;Riethmaier, Darlene;Savage, Melissa;Smith-Packard, Bethanny;Kaminsky, Erin B.;Rehm, Heidi L.;Martin, Christa Lese;Ledbetter, David H.;Faucett, W. Andrew
2012年5月21日至22日，在马里兰州贝塞斯达举行了2012年国际细胞基因组阵列标准（ISCA）联盟会议，“迈向通用临床基因组数据库”，来自世界各地的200多名代表临床基因检测实验室、临床医生、学术界、工业界、研究和监管机构的人士参加了会议。该科学计划的重点是扩大ISCA联盟目前的重点，将结构和序列水平变异的收集和管理纳入统一的临床基因组学数据库，通过国家生物技术信息中心（NCBI）的ClinVar数据库等资源向公众提供。在这里，我们提供了一个会议的概述，与超过25个不同的发言者提出的讨论主题的摘要。发言稿可在网上查阅，网址是：www.iscacons.org。
The 2012 International Standards for Cytogenomic Arrays (ISCA) Consortium Meeting, “Towards a Universal Clinical Genomic Database,” was held in Bethesda, MD, 21–22 May 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 (NCBI)’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.
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影响因子：
3.5
作者：
Riggs ER;Church DM;Hanson K;Horner VL;Kaminsky EB;Kuhn RM;Wain KE;Williams ES;Aradhya S;Kearney HM;Ledbetter DH;South ST;Thorland EC;Martin CL
通讯作者：
Martin CL
影响因子：
30.8
作者：
Cooper, Gregory M.;Coe, Bradley P.;Eichler, Evan E.
通讯作者：
Eichler, Evan E.
DOI：
10.1056/nejmoa1203382
发表时间：
2012-12-06
期刊：
The New England journal of medicine
影响因子：
--
作者：
Wapner RJ;Martin CL;Levy B;Ballif BC;Eng CM;Zachary JM;Savage M;Platt LD;Saltzman D;Grobman WA;Klugman S;Scholl T;Simpson JL;McCall K;Aggarwal VS;Bunke B;Nahum O;Patel A;Lamb AN;Thom EA;Beaudet AL;Ledbetter DH;Shaffer LG;Jackson L
通讯作者：
Jackson L
影响因子：
9.8
作者：
Church DM;Schneider VA;Graves T;Auger K;Cunningham F;Bouk N;Chen HC;Agarwala R;McLaren WM;Ritchie GR;Albracht D;Kremitzki M;Rock S;Kotkiewicz H;Kremitzki C;Wollam A;Trani L;Fulton L;Fulton R;Matthews L;Whitehead S;Chow W;Torrance J;Dunn M;Harden G;Threadgold G;Wood J;Collins J;Heath P;Griffiths G;Pelan S;Grafham D;Eichler EE;Weinstock G;Mardis ER;Wilson RK;Howe K;Flicek P;Hubbard T
通讯作者：
Hubbard T