Copy number variants are a common cause of non-syndromic hearing loss

Copy number variants (CNVs) are a well-recognized cause of genetic disease; however, methods for their identification are often gene-specific, excluded as 'routine' in screens of genetically heterogeneous disorders, and not implemented in most next-generation sequencing pipelines. For this...

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Veröffentlicht in:	Genome medicine 2014-05, Vol.6 (5), p.37-37, Article 37
Hauptverfasser:	Shearer, A Eliot, Kolbe, Diana L, Azaiez, Hela, Sloan, Christina M, Frees, Kathy L, Weaver, Amy E, Clark, Erika T, Nishimura, Carla J, Black-Ziegelbein, E Ann, Smith, Richard J H
Format:	Artikel
Sprache:	eng
Schlagworte:	Analysis Deafness Genes Genetic screening Hearing loss Multiprocessing
Online-Zugang:	Volltext
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