Outcome of array CGH analysis for 255 subjects with intellectual disability and search for candidate genes using bioinformatics

• Published in: Human genetics Vol. 128; no. 2; pp. 179 - 194
• Main Authors: Qiao, Y, Harvard, C, Tyson, C, Liu, X, Fawcett, C, Pavlidis, P, Holden, J. J. A, Lewis, M. E. S, Rajcan-Separovic, E
• Format: Journal Article
• Language: English
• Published: Berlin/Heidelberg Berlin/Heidelberg : Springer-Verlag 01.08.2010; Springer-Verlag; Springer; Springer Nature B.V
• Subjects: Adult and adolescent clinical studies; Bioinformatics; Biological and medical sciences; Biomedical and Life Sciences; Biomedicine; Classical genetics, quantitative genetics, hybrids; Comparative Genomic Hybridization - methods; Computational Biology; Cytogenetics; Datasets; Disease; Fundamental and applied biological sciences. Psychology; Gene Function; General aspects; Genes; Genetics; Genetics of eukaryotes. Biological and molecular evolution; Genomes; Genotype & phenotype; Human; Human Genetics; Humans; Intellectual deficiency; Intellectual disabilities; Intellectual Disability - genetics; Internet software; Kinases; Laboratories; Mathematics in biology. Statistical analysis. Models. Metrology. Data processing in biology (general aspects); Medical sciences; Metabolic Diseases; Molecular Medicine; Original Investigation; Proteins; Psychology. Psychoanalysis. Psychiatry; Psychopathology. Psychiatry; Canada; Mouse Genome Informatics; Intellectual Disability; Priority List; Gene Prioritization; Handicap; Intellectual deficiency; Genetics; Developmental disorder; Candidate gene; Mental retardation; Bioinformatics

Array CGH enables the detection of pathogenic copy number variants (CNVs) in 5-15% of individuals with intellectual disability (ID), making it a promising tool for uncovering ID candidate genes. However, most CNVs encompass multiple genes, making it difficult to identify key disease gene(s) underlyi...