Article

DiGAS: Differential gene allele spectrum as descriptor in genetic studies

2023-10-16

Abstract excerpt

Diagnosing subjects in complex genetic diseases is a very challenging task. Computational methodologies exploit information at genotype level by taking into account single nucleotide polymorphisms (SNP). They leverage the result of genome-wide association studies analysis to assign a statistical significance to each SNP. Recent methodologies extend such an approach by aggregating SNP significance at genetic level...

Topics

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

Identifiers and source

Literature Corpus work: c7682b2a-b196-5a65-ba63-ace1e06d27a9
DOI: 10.1101/2023.10.16.23297102

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 9 closest

DiGAS: Differential gene allele spectrum as descriptor in genetic studiesDOI 10.1101/2023.10.16.23297102Read

DiGAS: Differential gene allele spectrum as a descriptor in genetic studies.Semantic proximity Read

AllelePred: A Simple Allele Frequencies Ensemble Predictor for Different Single Nucleotide Variants.Semantic proximity Read

ABACUS: an entropy-based cumulative bivariate statistic robust to rare variants and different direction of genotype effect.Semantic proximity Read

Machine learning application for patient stratification and phenotype/genotype investigation in a rare disease.Semantic proximity Read

Kullback-Leibler distance methods for detecting disease association with rare variants from sequencing data.Semantic proximity Read

Influence of Feature Encoding and Choice of Classifier on Disease Risk Prediction in Genome-Wide Association Studies.Semantic proximity Read

Locating suspicious lethal genes by abnormal distributions of SNP patternsSemantic proximity Read

Allele frequency net database (AFND) 2020 update: gold-standard data classification, open access genotype data and new query toolsSemantic proximity Read