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

Summary: The human genome comprises approximately 3% of tandem repeats with variable length (VNTR), a few of which have been linked to human rare diseases. Autosomal dominant tubulointerstitial kidney disease—MUC1 (ADTKD-MUC1) is caused by specific frameshift variants in the coding VNTR of the MUC1...

Full description

Bibliographic Details
Main Authors:	Hassan Saei, Vincent Morinière, Laurence Heidet, Olivier Gribouval, Said Lebbah, Frederic Tores, Manon Mautret-Godefroy, Bertrand Knebelmann, Stéphane Burtey, Vincent Vuiblet, Corinne Antignac, Patrick Nitschké, Guillaume Dorval
Format:	Article
Language:	English
Published:	Elsevier 2023-07-01
Series:	iScience
Subjects:	Genetics Genomics Techniques in genetics Genotyping
Online Access:	http://www.sciencedirect.com/science/article/pii/S2589004223012488

Internet

http://www.sciencedirect.com/science/article/pii/S2589004223012488

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

Internet

Similar Items