Targeted long-read sequencing identified a causal structural variant in X-linked nephrogenic diabetes insipidus

Targeted long-read sequencing identified a causal structural variant in X-linked nephrogenic diabetes insipidus

Abstract Background X-linked nephrogenic diabetes insipidus (NDI) is a rare genetic renal disease caused by pathogenic variants in the AVPR2 gene. Single nucleotide variants and small insertions/deletions in AVPR2 are reliably detected by routine clinical sequencing. Nevertheless, structural variant...

Full description

Bibliographic Details
Main Authors: Lukáš Strych, Monika Černá, Markéta Hejnalová, Tomáš Zavoral, Pavla Komrsková, Jitka Tejcová, Ibrahim Bitar, Eva Sládková, Josef Sýkora, Ivan Šubrt
Format: Article
Language:English
Published: BMC 2024-01-01
Series:BMC Medical Genomics
Subjects:
Long-read sequencing
PacBio
Breakpoint analysis
AVPR2 deletion
Nephrogenic diabetes insipidus
Online Access:https://doi.org/10.1186/s12920-024-01801-1

Internet

https://doi.org/10.1186/s12920-024-01801-1

Similar Items