CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels
Abstract
Improved resolution of molecular diagnostic technologies enabled detection of smaller sized exonic level copy-number variants (CNVs). The contribution of CNVs to autosomal recessive (AR) conditions may be better recognized using a large clinical cohort.We retrospectively investigated the CNVs' contribution to AR conditions in cases subjected to chromosomal microarray analysis (CMA, N = ~70,000) and/or clinical exome sequencing (ES, N = ~12,000)...
Paper Details
Title
CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels
Published Date
Oct 1, 2020
Journal
Volume
22
Issue
10
Pages
1633 - 1641
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