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Genetic landscape of kidney failure in Israel

Kidney failure is a major cause of morbidity and mortality, and a substantial fraction of cases has an underlying monogenic cause that often remains undiagnosed. This study aimed to characterise the genetic landscape of kidney failure and to estimate the diagnostic yield of exome sequencing in a nationwide cohort of dialysis-treated patients in Israel. Proband exome sequencing was performed and variants were interpreted according to ACMG/AMP guidelines to identify molecular diagnoses in known kidney disease genes.

Type: Exome Sequencing
Archive: European Genome-phenome Archive (EGA)

1 Dataset

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Dataset ID	Description	Technology	Samples
EGAD50000003196	This dataset contains raw paired-end whole exome sequencing reads from 310 dialysis-treated individuals with kidney failure in Israel. Exome libraries were prepared from peripheral blood genomic DNA, captured using the IDT xGen Exome Hyb Panel v2, and sequenced on an Illumina NovaSeq 6000 system. Data are provided as gzip-compressed FASTQ files (R1/R2 read pairs), with some samples sequenced across multiple lanes.	Illumina NovaSeq 6000	310