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

RPGR 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 generally fails to...

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Detalles Bibliográficos
Autores principales: Maggi, Jordi, Roberts, Lisa, Koller, Samuel, Rebello, George, Berger, Wolfgang, Ramesar, Rajkumar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7396994/
https://www.ncbi.nlm.nih.gov/pubmed/32679846
http://dx.doi.org/10.3390/genes11070800

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7396994/
https://www.ncbi.nlm.nih.gov/pubmed/32679846
http://dx.doi.org/10.3390/genes11070800

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