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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Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: Nature Publishing Group 2014
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Article
Accesso online: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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