Article

Saturation Genome Editing Resolves the Functional Spectrum of Pathogenic <i>VHL</i> Alleles

2023-06-10

Abstract excerpt

<h4>ABSTRACT</h4> To maximize the impact of precision medicine approaches, it is critical to accurately identify genetic variants in cancer-associated genes with functional consequences. Yet, our knowledge of rare variants conferring clinically relevant phenotypes and the mechanisms through which they act remains highly limited. A tumor suppressor gene exemplifying the challenge of variant interpretation is VHL...

Topics

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

Identifiers and source

Literature Corpus work: d75bb95d-b63a-5419-9e52-795fe4ea093a
DOI: 10.1101/2023.06.10.542698

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Saturation Genome Editing Resolves the Functional Spectrum of Pathogenic <i>VHL</i> AllelesDOI 10.1101/2023.06.10.542698Read

Saturation genome editing maps the functional spectrum of pathogenic VHL alleles.Semantic proximity Read

Saturation genome editing of <i>BRCA1</i> across cell types accurately resolves cancer riskSemantic proximity Read

Analyzing the functional effects of DNA variants with gene editing.Semantic proximity Read

Saturation genome editing-based functional evaluation and clinical classification of BRCA2 single nucleotide variantsSemantic proximity Read

Accurate functional classification of thousands of <i>BRCA1</i> variants with saturation genome editingSemantic proximity Read

Saturation genome editing-based functional evaluation and clinical classification of BRCA2 single nucleotide variantsSemantic proximity Read

Accurate classification of BRCA1 variants with saturation genome editing.Semantic proximity Read

Synonymous but Not Silent: A Synonymous VHL Variant in Exon 2 Confers Susceptibility to Familial Pheochromocytoma and von Hippel-Lindau DiseaseSemantic proximity Read

VHL, the story of a tumour suppressor gene.Semantic proximity Read

Genetic evidence of a precisely tuned dysregulation in the hypoxia signaling pathway during oncogenesis.Semantic proximity Read

Saturation genome editing of BAP1 functionally classifies somatic and germline variants.Semantic proximity Read

Saturation-seq integrates single-cell saturation genome editing and RNA-seq to quantify <i>NFE2L2</i> (NRF2) variant effectsSemantic proximity Read