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Clinical analysis of germline copy number variation in DMD using a non-conjugate hierarchical Bayesian model

BACKGROUND: Detection of copy number variants (CNVs) is an important aspect of clinical testing for several disorders, including Duchenne muscular dystrophy, and is often performed using multiplex ligation-dependent probe amplification (MLPA). However, since many genetic carrier screens depend inste...

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Detalles Bibliográficos
Autores principales:	Kozareva, Velina, Stroff, Clayton, Silver, Maxwell, Freidin, Jonathan F., Delaney, Nigel F.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2018
Materias:	Technical Advance
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6195989/ https://www.ncbi.nlm.nih.gov/pubmed/30342520 http://dx.doi.org/10.1186/s12920-018-0404-4

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