Authors
Erin B Kaminsky, Vineith Kaul, Justin Paschall, Deanna M Church, Brian Bunke, Dawn Kunig, Daniel Moreno-De-Luca, Andres Moreno-De-Luca, Jennifer G Mulle, Stephen T Warren, Gabriele Richard, John G Compton, Amy E Fuller, Troy J Gliem, Shuwen Huang, Morag N Collinson, Sarah J Beal, Todd Ackley, Diane L Pickering, Denae M Golden, Emily Aston, Heidi Whitby, Shashirekha Shetty, Michael R Rossi, M Katharine Rudd, Sarah T South, Arthur R Brothman, Warren G Sanger, Ramaswamy K Iyer, John A Crolla, Erik C Thorland, Swaroop Aradhya, David H Ledbetter, Christa L Martin
Publication date
2011/9
Journal
Genetics in medicine
Volume
13
Issue
9
Pages
777-784
Publisher
Nature Publishing Group
Description
Purpose: Copy number variants have emerged as a major cause of human disease such as autism and intellectual disabilities. Because copy number variants are common in normal individuals, determining the functional and clinical significance of rare copy number variants in patients remains challenging. The adoption of whole-genome chromosomal microarray analysis as a first-tier diagnostic test for individuals with unexplained developmental disabilities provides a unique opportunity to obtain large copy number variant datasets generated through routine patient care.
Methods: A consortium of diagnostic laboratories was established (the International Standards for Cytogenomic Arrays consortium) to share copy number variant and phenotypic data in a central, public database. We present the largest copy number variant case-control study to date comprising 15,749 International Standards for Cytogenomic …
Total citations
Scholar articles
EB Kaminsky, V Kaul, J Paschall, DM Church, B Bunke… - Genetics in medicine, 2011