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...

Full description

Saved in:
Bibliographic Details
Published in:Genes (Basel)
Main Authors: Maggi, Jordi, Roberts, Lisa, Koller, Samuel, Rebello, George, Berger, Wolfgang, Ramesar, Rajkumar
Format: Artigo
Language:Inglês
Published: MDPI 2020
Subjects:
Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC7396994/
https://ncbi.nlm.nih.gov/pubmed/32679846
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/genes11070800
Tags: Add Tag
No Tags, Be the first to tag this record!

Similar Items