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Dataset ID

JGAD000099

Type of data: NGS (Exome)
Access criteria: Controlled-access (Type I)
Total data volume: 3.2 GB
File formats: FASTQ
Research: hum0107
Date published: 2020-09-28
Date modified: 2020-11-18
DDBJ Search: JGAD000099 (opens in a new tab)
JGA Study: JGAS000099 (opens in a new tab)

Analysis method

WES

Materials and participants: Gorlin syndrome (ICD10: Q859) : 4 cases
oral mucosa fibroblast : 4 samples
oral mucosa : 1 sample; Health status
Affected
Subject count
4 (Individual)
Disease: Gorlin syndrome (Q859)
Sample description: DNAs extracted from oral mucosa fibroblasts and oral mucosa; Tissue
Oral mucosa, Oral mucosa fibroblast
Sample provider: N/A
Experimental method: WES
Target: N/A
Reagent kit: SureSelect Human All Exon V5
Fragmentation: Ultrasonic fragmentation (Covaris)
Platform: Illumina HiSeq 2500
Illumina HiSeq 4000
Read type: Paired-end
Read length: 100 bp
Data use policy: NBDC data sharing policy (JGAP000001)