VNtyper enables accurate alignment-free genotyping of MUC1 coding VNTR using short-read sequencing data in autosomal dominant tubulointerstitial kidney disease-Reference-Cited by-同舟云学术

VNtyper enables accurate alignment-free genotyping of MUC1 coding VNTR using short-read sequencing data in autosomal dominant tubulointerstitial kidney disease

Published:2023-07 Issue:7 Volume:26 Page:107171
ISSN:2589-0042
Container-title:iScience
language:en
Short-container-title:iScience

Author:

Saei Hassan,Morinière Vincent,Heidet Laurence,Gribouval Olivier,Lebbah Said,Tores Frederic,Mautret-Godefroy Manon,Knebelmann Bertrand,Burtey Stéphane,Vuiblet Vincent,Antignac Corinne,Nitschké Patrick,Dorval Guillaume

Funder

Agence Nationale de la Recherche

Institut des maladies génétiques Imagine

Publisher

Elsevier BV

Subject

Multidisciplinary

Reference39 articles.

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3. Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia;Bolar;Am. J. Hum. Genet.,2016

4. Autosomal Dominant Tubulointerstitial Kidney Disease: Clinical Presentation of Patients With ADTKD-UMOD and ADTKD-MUC1;Ayasreh;Am. J. Kidney Dis.,2018

5. A complete pedigree-based graph workflow for rare candidate variant analysis;Markello;Genome Res.,2022

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1. The Role of Genetic Testing in Adult CKD;Journal of the American Society of Nephrology;2024-05-06

2. Description of a New Simple and Cost-Effective Molecular Testing That Could Simplify MUC1 Variant Detection;Kidney International Reports;2024-05

3. #276 ADTKD genetic diagnostics in Europe: where do we stand and what is needed?;Nephrology Dialysis Transplantation;2024-05