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Following a change to our organizational structure effective April 1, 2026, this division has been renamed from the "Database Center for Life Science, Joint Support-Center for Data Science Research" to the "Database Division for Life Science (DBCLS), BioData Science Initiative (BSI), National Institute of Genetics (NIG)". Where the former name still appears in the guidelines, please read it as the new name.

Dataset ID

JGAD000754

Type of data: NGS (Exome)
Access criteria: Controlled-access (Type I)
Total data volume: 37.4 GB
File formats: BAM
Research: hum0411
Date published: 2023-07-18
Date modified: 2024-01-30
DDBJ Search: JGAD000754 (opens in a new tab)
JGA Study: JGAS000625 (opens in a new tab)

Analysis method

WES

Materials and participants: FBPase deficiency (ICD10: E74.1): 1 case
3 family members (father, mother, sister); Health status
Mixed
Subject count
4 (Individual)
Disease: FBPase deficiency (E741)
Sample description: DNAs extracted from peripheral blood cells; Tissue
Peripheral blood
Tumor / normal
Normal
Sample provider: N/A
Experimental method: WES
Target: N/A
Reagent kit: SureSelect Human All Exon V6
Fragmentation: Ultrasonic fragmentation (Covaris)
Platform: Illumina HiSeq 2500
Read type: Paired-end
Read length: 126 bp
Reference genome: GRCh37
Mapping: bwa
Mapping quality: mapping quality > 20
Coverage (depth): 139x
Data use policy: Familial Policy (JGAP000006)