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...
Main Authors: | , , , , |
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Format: | Article |
Language: | English |
Published: |
BMC
2018-10-01
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Series: | BMC Medical Genomics |
Subjects: | |
Online Access: | http://link.springer.com/article/10.1186/s12920-018-0404-4 |