Computational protocol: Novel insights into the molecular pathogenesis of CYP4V2-associated Bietti's retinal dystrophy

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Protocol publication

[…] For each of the missense changes identified in this study, the potential pathogenicity was assessed using online prediction software tools SIFT (Sorting Intolerant from Tolerant) and PolyPhen (Ng and Henikoff ). Grantham and PhyloP scores were also determined. In addition, the Exome Variant Server database was checked for the presence and minor allele frequencies of these novel mutations. Four computational programs, SpliceSite finder-like, MaxEntScan (Yeo and Burge ), NNSPLICE (Reese et al. ), and Human Splicing Finder (Desmet et al. ) were employed to predict the effect on the canonical acceptor and donor splice sites. […]

Pipeline specifications

Software tools SIFT, PolyPhen, PHAST, MaxEntScan, NNSplice, HSF
Databases Exome Variant Server
Application WGS analysis
Organisms Homo sapiens
Diseases Retinal Diseases, Retinal Dystrophies