De Novo Assembly-Based Analysis of <i>RPGR</i> Exon ORF15 in an Indigenous African Cohort Overcomes Limitations of a Standard Next-Generation Sequencing (NGS) Data Analysis Pipeline

De Novo Assembly-Based Analysis of <i>RPGR</i> Exon ORF15 in an Indigenous African Cohort Overcomes Limitations of a Standard Next-Generation Sequencing (NGS) Data Analysis Pipeline

<i>RPGR</i> exon ORF15 variants are one of the most frequent causes for inherited retinal disorders (IRDs), in particular retinitis pigmentosa. The low sequence complexity of this mutation hotspot makes it prone to indels and challenging for sequence data analysis. Whole-exome sequencing...

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Bibliographic Details
Main Authors: Jordi Maggi, Lisa Roberts, Samuel Koller, George Rebello, Wolfgang Berger, Rajkumar Ramesar
Format: Article
Language:English
Published: MDPI AG 2020-07-01
Series:Genes
Subjects:
RPGR
ORF15
RP
de novo assembly
diagnostics
genetic testing
Online Access:https://www.mdpi.com/2073-4425/11/7/800

Internet

https://www.mdpi.com/2073-4425/11/7/800

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