Towards a Universal Clinical Genomics Database: the 2012 International Standards for Cytogenomic Arrays Consortium Meeting.
作者： Erin Rooney Riggs , Karen E. Wain , Darlene Riethmaier , Melissa Savage , Bethanny Smith-Packard
DOI: 10.1002/HUMU.22306
关键词:
摘要: 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 attended by over 200 individuals from around the world representing clinical genetic testing laboratories, clinicians, academia, industry, research, regulatory agencies. scientific program centered on expanding current focus of ISCA to include collection curation both structural sequence-level variation into unified genomics database, available public through resources such as National Center Biotechnology Information's ClinVar database. Here, we provide an overview conference, with summaries topics presented discussion 25 different speakers. Presentations are online at www.iscaconsortium.org.
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