American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2011-06-15

AUTHORS

Hutton M Kearney, Erik C Thorland, Kerry K Brown, Fabiola Quintero-Rivera, Sarah T South,

ABSTRACT

Genomic microarrays used to assess DNA copy number are now recommended as first-tier tests for the postnatal evaluation of individuals with intellectual disability, autism spectrum disorders, and/or multiple congenital anomalies. Application of this technology has resulted in the discovery of widespread copy number variation in the human genome, both polymorphic variation in healthy individuals and novel pathogenic copy number imbalances. To assist clinical laboratories in the evaluation of copy number variants and to promote consistency in interpretation and reporting of genomic microarray results, the American College of Medical Genetics has developed the following professional guidelines for the interpretation and reporting of copy number variation. These guidelines apply primarily to evaluation of constitutional copy number variants detected in the postnatal setting. More... »

PAGES

680-685

Identifiers

URI

http://scigraph.springernature.com/pub.10.1097/gim.0b013e3182217a3a

DOI

http://dx.doi.org/10.1097/gim.0b013e3182217a3a

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1009028405

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/21681106


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