Article

Framework for prioritizing variants of unknown significance from clinical genetic testing in kidney disease – utility of multidisciplinary approach to gather evidence of pathogenicity for Hepatocyte Nuclear Factor-1β (<i>HNF1B</i>) p.Arg303His

2022-04-05

Abstract excerpt

Monogenic causes in over 300 kidney-associated genes account for roughly 12% of end stage kidney disease (ESKD) cases. Advances in next generation sequencing, and large customized panels enable the diagnosis of monogenic kidney disease noninvasively at relatively low cost, allowing for more precise management for patients and their families. A major challenge is interpreting rare variants, many of which are classi...

Topics

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

Identifiers and source

Literature Corpus work: ccc1b66e-bd2f-5b28-a2e4-cc9c56fae1d1
DOI: 10.1101/2022.04.01.22273321

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Framework for prioritizing variants of unknown significance from clinical genetic testing in kidney disease – utility of multidisciplinary approach to gather evidence of pathogenicity for Hepatocyte Nuclear Factor-1β (<i>HNF1B</i>) p.Arg303HisDOI 10.1101/2022.04.01.22273321Read

Complexities in Variant Analysis, Classification, and Interpretation in Kidney Disease-Related Genes.Semantic proximity Read

The Burden of Candidate Pathogenic Variants for Kidney and Genitourinary Disorders Emerging From Exome SequencingSemantic proximity Read

Personalized medicine in chronic kidney disease by detection of monogenic mutationsSemantic proximity Read

In Vitro Functional Analysis Can Aid Precision Diagnostics of HNF1B-MODY.Semantic proximity Read

The Phenotypic Variability Associated with Hepatocyte Nuclear Factor 1B Genetic Defects Poses Challenges in Both Diagnosis and Therapy.Semantic proximity Read

Genetic Evaluation in Chronic Kidney Disease: A Canadian Single-Centre Experience from a Multicultural Urban PopulationSemantic proximity Read

A Practical Guide to Genetic Testing for Kidney Disorders of Unknown Etiology.Semantic proximity Read

A discarded synonymous variant in NPHP3 explains nephronophthisis and congenital hepatic fibrosis in several familiesSemantic proximity Read

The VUS Challenge in Cystic Kidney Disease: A Case-Based Review.Semantic proximity Read

GeNepher data- and biobank for patients with (suspected) genetic kidney disease: rationale, design and status updateSemantic proximity Read

The Landscape of HNF1B Deficiency: A Syndrome Not Yet Fully ExploredSemantic proximity Read

A cross-sectional study of patients referred for HNF1B-MODY genetic testing due to cystic kidneys and diabetes.Semantic proximity Read