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Article

Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jun 2012

Aradhya Swaroop, Lewis Rachel, Bonaga Tahrra, Nwokekeh Nnenna, Stafford Amanda, Boggs Barbara, Hruska Kathleen, Smaoui Nizar, Compton John G, Richard Gabriele, Suchy Sharon

Abstract excerpt

PURPOSE: Mendelian disorders are most commonly caused by mutations identifiable by DNA sequencing. Exonic deletions and duplications can go undetected by sequencing, and their frequency in most Mendelian disorders is unknown. METHODS: We designed an array comparative genomic hybridization (CGH) test with probes in exonic regions of 589 genes. Targeted testing was performed for 219 genes in 3,018 patients. We...

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Identifiers

PMID: 22382802
DOI: 10.1038/gim.2011.65

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