Article

A phenotype-specific framework for identifying the eye abnormalities causative nonsynonymous-variants

2020-04-13

Abstract excerpt

The most important role of variant pathogenicity predictors is to identify the disease-phenotype causative variant in studying monogenic diseases. In the last decade, machine-learning based predictors exhibited a relatively accurate performance for distinguishing the pathogenic variants and contributed a significant role for all disease-spectrums. Yet, few predictors can investigate the phenotypic significance of...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: ad712493-e3ed-5909-a547-aa67c73ebfde
DOI: 10.1101/2020.04.13.038059

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

A phenotype-specific framework for identifying the eye abnormalities causative nonsynonymous-variantsDOI 10.1101/2020.04.13.038059Read

PdmIRD: missense variants pathogenicity prediction for inherited retinal diseases in a disease-specific manner.Semantic proximity Read

De Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases.Semantic proximity Read

Comparative analysis of in-silico tools in identifying pathogenic variants in dominant inherited retinal diseases.Semantic proximity Read

Eye2Gene: prediction of causal inherited retinal disease gene from multimodal imaging using deep-learningSemantic proximity Read

Disease-Phenotype Deconvolution in Genetic Eye Diseases Using Online Mendelian Inheritance in Man.Semantic proximity Read

Phenogenon: Gene to Phenotype Associations for Rare Genetic DiseasesSemantic proximity Read

Prevalence of loss-of-function, gain-of-function and dominant-negative mechanisms across genetic disease phenotypesSemantic proximity Read

Pathogenicity Reclassification of RPE65 Missense Variants Related to Leber Congenital Amaurosis and Early-Onset Retinal DystrophySemantic proximity Read

Early Diagnosis of Syndromic Congenital Cataracts in a Large Cohort of Congenital Cataracts.Semantic proximity Read

Gene and phenome-based analysis of the shared genetic architecture of eye diseases.Semantic proximity Read

Pathogenicity Reassessment and Novel Variant Discovery in Inherited Retinal Disease through Population-Scale Genomics in the United Arab EmiratesSemantic proximity Read

Assessment of In-Frame Indel Variants in an Unsolved Cohort of Inherited Retinal Diseases Using Machine Learning.Semantic proximity Read