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Ghalib Bardai

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Articles

RNA Sequencing of Urine‐Derived Cells for the Characterization and Diagnosis of Osteogenesis Imperfecta

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By Karissa Ludwig, Zenghui Wu, Ghalib Bardai, Patrizia Mason
| Wiley Online Library Verified
Discussion In this study, we found that UDC can be used as a source of material for RNA sequencing to diagnose OI and similar bone fragility disorders. The genes that are most commonly affected in OI, COL1A1 and COL1A2, and other genes related to collagen type I production are expressed at sufficiently high levels to detect transcript abnormalities by RNA sequencing. We used this approach to provide transcript-level functional evidence supporting pathogenicity (abnormal splicing) in two VUS.
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