Article

Gene-disease association: pathogenic potential/pathogenic feature assessment

2023-09-18

Abstract excerpt

<title>Abstract</title> <p>Determining gene-disease associationsis an essential task but a major challenge of genetic studies. It is also the precondition for evaluating the pathogenicity of variants. Considering what determines the gene-disease association and which clinical-genetic features reflect the gene-disease association, we proposed a pathogenic potential and pathogenic feature assessment (PPA) system to...

Topics

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

Identifiers and source

Literature Corpus work: 4aa4f1ae-bd12-54dd-8a70-560a22088d4f
DOI: 10.21203/rs.3.rs-2157360/v2

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Gene-disease association: pathogenic potential/pathogenic feature assessmentDOI 10.21203/rs.3.rs-2157360/v2Read

Genetic Dependence and Genetic DiseasesSemantic proximity Read

Evaluation of reported pathogenic variants and their frequencies in a Japanese population based on a whole-genome reference panel of 2049 individuals.Semantic proximity Read

Stepwise ABC system for classification of any type of genetic variant.Semantic proximity Read

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.Semantic proximity Read

Hypothesis-free phenotype prediction within a genetics-first frameworkSemantic proximity Read

Tissue-aware interpretation of genetic variants advances the etiology of rare diseases.Semantic proximity Read

Gene-disease relationship evidence: A clinical perspective focusing on ultra-rare diseases.Semantic proximity Read

[Advance of the research for disease-responsible genes].Semantic proximity Read

pfSNP: An integrated potentially functional SNP resource that facilitates hypotheses generation through knowledge syntheses.Semantic proximity Read

The Excess of Carriers in Rare Disorders Suggests a Nonpathogenic Effect for Most Variants of Uncertain Significance.Semantic proximity Read

Expanding ACMG variant classification guidelines into a general framework.Semantic proximity Read

Towards robust clinical genome interpretation: developing a consistent terminology to characterize disease-gene relationships - allelic requirement, inheritance modes and disease mechanismsSemantic proximity Read