Article
Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing.
European journal of human genetics : EJHG - 1 Jan 2014
Wiszniewska Joanna, Bi Weimin, Shaw Chad, Stankiewicz Pawel, Kang Sung-Hae L, Pursley Amber N, Lalani Seema, Hixson Patricia, Gambin Tomasz, Tsai Chun-hui, Bock Hans-Georg, Descartes Maria, Probst Frank J, Scaglia Fernando, Beaudet Arthur L, Lupski James R, Eng Christine, Cheung Sau Wai, Bacino Carlos, Patel Ankita
Abstract excerpt
In clinical diagnostics, both array comparative genomic hybridization (array CGH) and single nucleotide polymorphism (SNP) genotyping have proven to be powerful genomic technologies utilized for the evaluation of developmental delay, multiple congenital anomalies, and neuropsychiatric disorders. Differences in the ability to resolve genomic changes between these arrays may constitute an implementation challenge...
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