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T owards a U niversal C linical G enomics D atabase: The 2012 I nternational S tandards for C ytogenomic A rrays C onsortium M eeting
Author(s) -
Riggs Erin Rooney,
Wain Karen E.,
Riethmaier Darlene,
Savage Melissa,
SmithPackard Bethanny,
Kaminsky Erin B.,
Rehm Heidi L.,
Martin Christa Lese,
Ledbetter David H.,
Faucett W. Andrew
Publication year - 2013
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.22306
Subject(s) - biology , genomics , computational biology , bioinformatics , data science , genetics , genome , computer science , gene
ABSTRACT The 2012 I nternational S tandards for C ytogenomic A rrays ( ISCA ) C onsortium M eeting, “ T owards a U niversal C linical G enomic D atabase,” was held in B ethesda, 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 C onsortium 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 N ational C enter for B iotechnology I nformation's C lin V ar 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 .