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The impact of array genomic hybridization on mental retardation research: a review of current technologies and their clinical utility
Author(s) -
Zahir F,
Friedman JM
Publication year - 2007
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.2007.00847.x
Subject(s) - comparative genomic hybridization , genome , copy number variation , computational biology , biology , genetics , clinical diagnosis , medicine , gene , pediatrics
Our understanding of the causes of mental retardation is benefiting greatly from whole‐genome scans to detect submicroscopic pathogenic copy number variants (CNVs) that are undetectable by conventional cytogenetic analysis. The current method of choice for performing whole‐genome scans for CNVs is array genomic hybridization (AGH). Several platforms are available for AGH, each with its own strengths and limitations. This review discusses considerations that are relevant to the clinical use of whole‐genome AGH platforms for the diagnosis of pathogenic CNVs in children with mental retardation. Whole‐genome AGH studies are a maturing technology, but their high diagnostic utility assures their increasing use in clinical genetics.