Landscape of pathogenic variants in six pre-mRNA processing factor genes for retinitis pigmentosa based on large in-house data sets and database comparisons.

Junwen WangXueshan XiaoShiqiang LiHongmei JiangWenmin Sun Panfeng Wang Qingjiong Zhang

Published in: Acta ophthalmologica (2022)

Systemic comparative analysis may shed light on the characterization of PPVs in these genes. Our findings provide a brief landscape of PPVs in PRPF genes and the associated phenotypes and emphasize the careful classification of pathogenicity for certain types of variants that warrant further characterization.

Keyphrases

genome wide
copy number
bioinformatics analysis
genome wide identification
machine learning
single cell
deep learning
emergency department
electronic health record
escherichia coli
transcription factor
adverse drug
candida albicans