Using VNtyper from Whole Exome Sequencing Data to Detect Pathogenic Variants in the MUC1 Gene

Affiliations

• ¹ Laboratory of Hereditary Kidney Diseases, Inserm UMR 1163, Imagine Institute, Université Paris Cité, Paris, France.
• ² Bioinformatics Platform, Inserm UMR 1163, Imagine Institute, Université Paris Cité, Paris, France.
• ³ Department of Genomic Medicine for Rare Diseases, Necker-Enfants Malades Hospital, AP-HP, Paris, France.
• ⁴ Pediatric Nephrology Department, MARHEA Reference Center, Necker Enfants Malades Hospital, AP-HP, Paris, France.