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Phenotypic information in genomic variant databases enhances clinical care and research: The international standards for cytogenomic arrays consortium experience†

  1. Erin Rooney Riggs1,*,
  2. Laird Jackson2,
  3. David T. Miller3,
  4. Steven Van Vooren4

Article first published online: 20 MAR 2012

DOI: 10.1002/humu.22052

Issue

Human Mutation

Human Mutation

Special Issue: Deep Phenotyping for Precision Medicine

Volume 33, Issue 5, pages 787–796, May 2012

Additional Information

How to Cite

Riggs, E. R., Jackson, L., Miller, D. T. and Van Vooren, S. (2012), Phenotypic information in genomic variant databases enhances clinical care and research: The international standards for cytogenomic arrays consortium experience. Hum. Mutat., 33: 787–796. doi: 10.1002/humu.22052

Author Information

  1. 1

    Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia

  2. 2

    Department of Obstetrics and Gynecology, Drexel University College of Medicine, and Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania

  3. 3

    Division of Genetics, Department of Laboratory Medicine, Children's Hospital Boston, Boston, Massachusetts

  4. 4

    Cartagenia, Leuven, Belgium

*2165 N Decatur Road, Decatur, GA 30033

  1. †

    For the Deep Phenotyping Special Issue

Publication History

  1. Issue published online: 13 APR 2012
  2. Article first published online: 20 MAR 2012
  3. Accepted manuscript online: 13 FEB 2012 11:57AM EST
  4. Manuscript Accepted: 22 JAN 2012
  5. Manuscript Received: 4 NOV 2011

Funded by

  • National Institutes of Health. Grant Number: #HD064525

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