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NAR-GAB 2025 deposit data

Human exome gVCFs: rare-disease cohort for the NAR-GAB 2025 study on splicing-SNV prioritization.

Type: Exome Sequencing
Archiver: European Genome-Phenome Archive (EGA)

1 Dataset 1 Publication

Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data

Dataset ID	Description	Technology	Samples
EGAD50000002100	Paired-end whole-exome sequencing data derived from Illumina hybrid-capture experiments (Agilent SureSelect Human All Exon kits). Six human probands with rare diseases; one sample per subject. Sequencing reads from each individual were processed into analysis-ready gVCF files following standard best-practice pipelines, including alignment, duplicate marking, base quality calibration, and variant calling. All gVCF files are encrypted using Crypt4GH and are available under controlled access through our DAC in accordance with a strict DUO-based policy.	Illumina HiSeq 2500	6

Publications	Citations
A practical framework for predicting splicing single nucleotide variants in exome sequencing. Utsuno Y, Hamanaka K, Sakamoto M, Tsuchida N, Uchiyama Y, Koshimizu E, Fujita A, Miyatake S, Mizuguchi T, Matsumoto N. NAR Genom Bioinform 7: 2025 lqaf180	0