Article

Improved Pathogenic Variant Localization using a Hierarchical Model of Sub-regional Intolerance

2018-09-30

Abstract excerpt

Different parts of a gene can be of differential importance to development and health. This regional heterogeneity is also apparent in the distribution of disease mutations which often cluster in particular regions of disease genes. The ability to precisely estimate functionally important sub-regions of genes will be key in correctly deciphering relationships between genetic variation and disease. Previous methods...

Topics

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

Identifiers and source

Literature Corpus work: afdf4adf-7aca-53d0-8271-af34549a0715
DOI: 10.1101/431536

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Improved Pathogenic Variant Localization using a Hierarchical Model of Sub-regional IntoleranceDOI 10.1101/431536Read

The intolerance to functional genetic variation of protein domains predicts the localization of pathogenic mutations within genes.Semantic proximity Read

Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals.Semantic proximity Read

Insights from spatial measures of intolerance to identify pathogenic variants in developmental and epileptic encephalopathiesSemantic proximity Read

Insights from Spatial Measures of Intolerance to Identifying Pathogenic Variants in Developmental and Epileptic Encephalopathies.Semantic proximity Read

Functional Category-Specific Intolerance Reflects Genic Function and Clinical RelevanceSemantic proximity Read

A subregion-based burden test for simultaneous identification of susceptibility loci and subregions within.Semantic proximity Read

The landscape of regional missense mutational intolerance quantified from 730,947 exomesSemantic proximity Read

Regional missense constraint improves variant deleteriousness predictionSemantic proximity Read

Statistical Dissection of the Genetic Determinants of Phenotypic Heterogeneity in Genes with Multiple Associated Rare Diseases.Semantic proximity Read

Genic intolerance to functional variation and the interpretation of personal genomes.Semantic proximity Read

Aggregation of population-based genetic variation over protein domain homologues and its potential use in genetic diagnostics.Semantic proximity Read

Prioritizing non-coding regions based on human genomic constraint and sequence context with deep learning.Semantic proximity Read