Towards a Universal Clinical Genomics Database: The 2012 International Standards for Cytogenomic Arrays Consortium Meeting

• Type of Material: Article
• Authors: Erin R Riggs, Emory University; Karen E Wain, Mayo Clinic; Darlene Riethmaier, GeneDx; Melissa Savage, Columbia University; Bethany Smith-Packard, Geisinger Health System; Erin B Kaminsky, Emory University; Heidi L Rehm, Partners Healthcare Center for Personalized Genetic Medicine; Christa Martin, Emory University; David H Ledbetter, Geisinger Health System; W Andrew Faucett, Geisinger Health System
• Language: English
• Date: 2013-06-01
• Publisher: Wiley
• Publication Version: Author Accepted Manuscript (After Peer Review)
• Copyright Statement: © 2013 Wiley Periodicals, Inc.
• Final Published Version (URL): http://dx.doi.org/10.1002/humu.22306
• Title of Journal or Parent Work: Human Mutation
• Volume: 34
• Issue: 6
• Start Page: 915
• End Page: 919
• Grant/Funding Information: This work was supported by NIH Grant HD064525 (C.L.M. and D.H.L.).
• Keywords: CNV; Life Sciences & Biomedicine; Genetics & Heredity; genotypephenotype correlations; Science & Technology; genetic databases
• Research Categories: Health Sciences, Medicine and Surgery; Biology, Genetics

Abstract

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. The 2012 International Standards for Cytogenomic Arrays (ISCA) Consortium Meeting was held in Bethesda, Maryland, May 21-22, 2012. The program centered on expanding the current focus of the Consortium to include the collection and curation of structural and sequence-level variation into a unified clinical genomics database, available to the public through resources such as the ClinVar database. Here, we announce plans to change our name to the International Collaboration for Clinical Genomics (ICCG) to reflect our expanded efforts.