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All called CNVs were evaluated according to the American College of Medical Genetics and Genomics Standards and Guidelines for interpretation of postnatal constitutional CNVs 21 and assigned in one of three main categories of significance including benign, pathogenic, and uncertain clinical significance (UCS). UCS is a broad category further classified into three groups namely likely pathogenic, likely benign and uncertain. Pathogenic CNVs have clearly established clinical significance and benign CNVs are those with a wellcharacterized nature, such as immunoglobulin heavy chain variable region (IGHV) genes and/or reported in databases as common polymorphism with a frequency of >1 % in normal population. Two studies performed by Coe et al. and Cooper et al. were utilized to realize about the CNVs frequency in normal and/or patients population 15, 16. Moreover, we included CNVs in benign category when they contained unrelated gene(s) to the patient’s phenotype. We consider a CNV as likely pathogenic when there is another similar case report(s) or includes at least one gene corresponding to the Mol Neurobiol patient’s phenotype (such as autism candidate genes). We might include a CNV in this group even if it is reported in DGV database but has a significant correlation with patient’s phenotype and/or has been reported in the other autistic patients. Likely benign CNVs are loci with no genes or those only reported in databases of normal variants in a small number. CNVs are regarded as uncertain clinical significance if there is incomplete or contradictory information in publications or databases. All data for CNV interpretation was obtained from databases and by literature search. The databases that were used included the following: Database of Genomic Variants (DGV,, Database of Structural Variation (dbVAR,, Database of Chromosomal Imbalance and Phenotype in Humans using Ensembl Resources (https://decipher., International Standard Cytogenomic Array Consortium (https://isca.genetics., The Simons Foundation Autism Research Initiative (, ClinVar (http://www.ncbi., UCSC Genome Bioinformatics Site (, OMIM (http://www.ncbi., AceView (http://www.ncbi.nlm.nih. gov/AceView/), and GeneCards (http://www.genecards. org/). All chromosome coordinates are based on hg19 /GRCh37.p13.

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