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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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Publicado no: | BMC Med Genomics |
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Main Authors: | , , , , |
Formato: | Artigo |
Idioma: | Inglês |
Publicado em: |
BioMed Central
2018
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Assuntos: | |
Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6195989/ https://ncbi.nlm.nih.gov/pubmed/30342520 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12920-018-0404-4 |
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