[HTML][HTML] American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants
HM Kearney, EC Thorland, KK Brown… - Genetics in …, 2011 - Elsevier
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 …
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 …