Article

Clinical prediction of pathogenic variants in non-coding regions of the human genome

2022-02-28

Abstract excerpt

Whole genome sequencing has become a wide-spread diagnostic tool for rare diseases patients. This broadens analyses to non-coding regions of the genome showing strong evidence of clinical significance for human Mendelian diseases. Notwithstanding its importance, current in-silico prediction tools are restricted to coding sequences which limits its applicability. Additionally, lack of power in discriminating varian...

Topics

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

Identifiers and source

Literature Corpus work: 6549b02e-0e0b-5255-b1da-a648c2029b22
DOI: 10.1101/2022.02.25.22271514

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Clinical prediction of pathogenic variants in non-coding regions of the human genomeDOI 10.1101/2022.02.25.22271514Read

Scoring of pathogenic non-coding variants in Mendelian diseases through supervised learning on ancient, recent and ongoing purifying selection signals in humanSemantic proximity Read

Classification of non-coding variants with high pathogenic impactSemantic proximity Read

Classification of non-coding variants with high pathogenic impact.Semantic proximity Read

Using large-scale population-based data to improve disease risk assessment of clinical variants.Semantic proximity Read

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

Biased pathogenic assertions of loss of function variants challenge molecular diagnosis of admixed individuals.Semantic proximity Read

CAPICE: a computational method for Consequence-Agnostic Pathogenicity Interpretation of Clinical Exome variationsSemantic proximity Read

Genetic variant pathogenicity prediction trained using disease-specific clinical sequencing datasetsSemantic proximity Read

Ancestry-specific performance of variant effect predictors in clinical variant classificationSemantic proximity Read

Using high-resolution variant frequencies to empower clinical genome interpretation.Semantic proximity Read

CAPICE: a computational method for Consequence-Agnostic Pathogenicity Interpretation of Clinical Exome variations.Semantic proximity Read

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