Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing

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. Dif...

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Main Authors: 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, Wai Cheung, Sau, Bacino, Carlos, Patel, Ankita
Format: Artigo
Language:Inglês
Published: Nature Publishing Group 2014
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Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC3865406/
https://ncbi.nlm.nih.gov/pubmed/23695279
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2013.77
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