Article

A curated census of pathogenic and likely pathogenic UTR variants and evaluation of deep learning models for variant effect prediction

2023-07-12

Abstract excerpt

Variants in 5’ and 3’ untranslated regions (UTR) contribute to rare disease. While predictive algorithms to assist in classifying pathogenicity can potentially be highly valuable, the utility of these tools is often unclear, as it depends on carefully selected training and validation conditions. To address this, we developed a high-confidence set of pathogenic (P) and likely pathogenic (LP) variants and assessed d...

Topics

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

Identifiers and source

Literature Corpus work: 341a3fcd-bb78-5b39-86fa-2b4efcc0fb5c
DOI: 10.1101/2023.07.10.23292474

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

A curated census of pathogenic and likely pathogenic UTR variants and evaluation of deep learning models for variant effect predictionDOI 10.1101/2023.07.10.23292474Read

Refinement of the clinical variant interpretation framework by statistical evidence and machine learning.Semantic proximity Read

REVEL is better at predicting pathogenicity of loss-of-function than gain-of-function variantsSemantic proximity Read

REVEL Is Better at Predicting Pathogenicity of Loss-of-Function than Gain-of-Function VariantsSemantic proximity Read

Assessing the performance of 28 pathogenicity prediction methods on rare single nucleotide variants in coding regions.Semantic proximity Read

Annotating pathogenic non-coding variants in genic regions.Semantic proximity Read

DITTO: An explainable machine-learning model for transcript- specific variant pathogenicity predictionSemantic proximity Read

Pathogenic variations illuminate functional constraints in intrinsically disordered proteinsSemantic proximity Read

Advanced variant classification framework reduces the false positive rate of predicted loss of function (pLoF) variants in population sequencing dataSemantic proximity Read

Evaluation of<i>in silico</i>pathogenicity prediction tools for the classification of small in-frame indelsSemantic proximity Read

PDIVAS: Pathogenicity predictor for Deep-Intronic Variants causing Aberrant Splicing.Semantic proximity Read

Performance Comparison of Computational Prediction Methods for the Function and Pathogenicity of Non-coding VariantsSemantic proximity Read

MetaRNN: Differentiating Rare Pathogenic and Rare Benign Missense SNVs and InDels Using Deep LearningSemantic proximity Read