DNA was isolated and labelled using Agilent-recommended protocol. CGH was performed on an Agilent Microarray platform with 105k probes (Agilent Inc., Santa Clara, CA). Array image was acquired with an Agilent Array Scanner. Microarray data was analyzed using the Cytogenomics software package from Agilent Inc. Interpretation of detected CNVs was conducted according to the ACMG standards and guidelines revision 2013 [13 (link)], and technical standards recommendation by ACMG and ClinGen [14 (link)]. Information for clinical significance on reported cases was extracted from Databases of Genomic Variants (ClinVar) at www.ncbi.nim.nih.gov/clinvar , and DECIPHER at www.decipher.sanger.ac.uk . Association analysis of gene function and clinical features is based on the information from Online Mendelian Inheritance in Man (OMIM at www.omim.org ).
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Comprehensive Genomic Profiling Using CGH
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Gene function
Genomic
Microarray
Corresponding Organization :
Other organizations : Tulane University
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Variable analysis
independent variables
- DNA isolation and labeling using Agilent-recommended protocol
- Copy number variations (CNVs) detected by CGH on Agilent Microarray platform with 105k probes
- Agilent Microarray platform with 105k probes
- Agilent Array Scanner for image acquisition
- Cytogenomics software package from Agilent Inc. for data analysis
- ACMG standards and guidelines revision 2013 for interpretation of detected CNVs
- ACMG and ClinGen technical standards recommendation for interpretation of detected CNVs
- Databases of Genomic Variants (ClinVar) and DECIPHER for information on clinical significance of reported cases
- Online Mendelian Inheritance in Man (OMIM) for association analysis of gene function and clinical features
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