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

Internet

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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