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...
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 |
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Format: | Article |
Language: | English |
Published: |
Elsevier
2023-07-01
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Series: | iScience |
Subjects: | |
Online Access: | http://www.sciencedirect.com/science/article/pii/S2589004223012488 |
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