Document Detail

Towards a Universal Clinical Genomics Database: the 2012 International Standards for Cytogenomic Arrays Consortium Meeting.
MedLine Citation:
PMID:  23463607     Owner:  NLM     Status:  MEDLINE    
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
Erin Rooney Riggs; Karen E Wain; Darlene Riethmaier; Melissa Savage; Bethanny Smith-Packard; Erin B Kaminsky; Heidi L Rehm; Christa Lese Martin; David H Ledbetter; W Andrew Faucett
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Publication Detail:
Type:  Congresses; Research Support, N.I.H., Extramural     Date:  2013-04-02
Journal Detail:
Title:  Human mutation     Volume:  34     ISSN:  1098-1004     ISO Abbreviation:  Hum. Mutat.     Publication Date:  2013 Jun 
Date Detail:
Created Date:  2013-05-22     Completed Date:  2013-12-30     Revised Date:  2014-06-03    
Medline Journal Info:
Nlm Unique ID:  9215429     Medline TA:  Hum Mutat     Country:  United States    
Other Details:
Languages:  eng     Pagination:  915-9     Citation Subset:  IM    
Copyright Information:
© 2013 Wiley Periodicals, Inc.
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MeSH Terms
Databases, Genetic*
Grant Support

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