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

Swaroop Aradhya | Zendy; Rachel Lewis | Zendy; Tahrra Bonaga | Zendy; Nnenwokekeh | Zendy; Amanda Stafford | Zendy; Barbara A. Boggs | Zendy; Kathleen S. Hruska | Zendy; Nizar Smaoui | Zendy; John G. Compton | Zendy; Gabriele Richard | Zendy; Sharon F. Suchy | Zendy

Open Access

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

Author(s) -

Swaroop Aradhya,

Rachel Lewis,

Tahrra Bonaga,

Nnenwokekeh,

Amanda Stafford,

Barbara A. Boggs,

Kathleen S. Hruska,

Nizar Smaoui,

John G. Compton,

Gabriele Richard,

Sharon F. Suchy

Publication year - 2012

Publication title -

genetics in medicine

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 3.509

H-Index - 128

eISSN - 1530-0366

pISSN - 1098-3600

DOI - 10.1038/gim.2011.65

Subject(s) - genetics , exon , gene duplication , comparative genomic hybridization , copy number variation , biology , mendelian inheritance , gene , omim : online mendelian inheritance in man , dna sequencing , mutation , genome , phenotype

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.

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