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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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Detalhes bibliográficos
Publicado no:Genes (Basel)
Main Authors: Maggi, Jordi, Roberts, Lisa, Koller, Samuel, Rebello, George, Berger, Wolfgang, Ramesar, Rajkumar
Formato: Artigo
Idioma:Inglês
Publicado em: MDPI 2020
Assuntos:
Acesso em linha: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
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