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

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

Abstract 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 depe...

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Bibliographic Details
Main Authors: Velina Kozareva, Clayton Stroff, Maxwell Silver, Jonathan F. Freidin, Nigel F. Delaney
Format: Article
Language:English
Published: BMC 2018-10-01
Series:BMC Medical Genomics
Subjects:
Copy number variation (CNV)
DMD
Carrier screening
Exome sequencing
Muscular dystrophy
Logit-normal distribution
Online Access:http://link.springer.com/article/10.1186/s12920-018-0404-4

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