Skip to content
NBDC Human Database

No datasets in the cart.

Go to the cart

Due to system maintenance, the application system, application review by the Data Access Committee will be unavailable during the following period.
Schedule: October 5th (Mon), 2026, 9:00 - October 7th (Wed), 2026, 15:00 (JST)
We apologize for any inconvenience this may cause and appreciate your understanding.

We are currently receiving a large number of applications for data submission, and the review process is taking longer than usual.We sincerely apologize for the delay and kindly ask for your understanding. When submitting an application, we would greatly appreciate it if you could allow sufficient time for the processing.

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

JGAD000864

Type of data
NGS (Target Capture)
Access criteria
Controlled-access (Type I)
Total data volume
4.5 GB
File formats
  • FASTQ
  • VCF
Research
hum0474
Date published
2024-08-23
Date modified
2024-08-23
DDBJ Search
JGAD000864 (opens in a new tab)
JGA Study
JGAS000731 (opens in a new tab)

Analysis method

Targeted DNA sequencing

Materials and participants
32 children with ASD (ICD10: F849)
8 children with low birth weight
3 children with sub-threshold ASD
36 typically developing children
buccal mucosa: each 1 sample (total 79 samples)
  • Health status
    Mixed
  • Subject count
    79 (Individual)
  • Age group
    Child
Disease
children with ASD (F849)
Sample description
DNAs extracted from buccal mucosa samples
  • Tissue
    Buccal mucosa
  • Tumor / normal
    Normal
Sample provider
N/A
Experimental method
Targeted DNA sequencing
Target
ASD-associated genes: POGZ, SCN1A, SCN2A, FOXP1, SLC6A1, ARID1B, SYNGAP1, CNTNAP2, KCNQ3, PTEN, SUV420H1, GRIN2B, CHD8, ADNP, DYRK1A, SHANK3
Promoter region: HTTLPR
SNPs in intergenic regions: rs1620977, rs34213746, rs1452075, rs16854048 , rs325506, rs2388334, rs111931861, rs7794745, rs10099100, rs11787216, rs2094530, rs10149470, rs113877277, rs6035856, rs6035857, rs6047381, rs6137325, rs6137326, rs71190156, rs910805
Reagent kit
KAPA HyperPlus Kit
Fragmentation
Enzymatic fragmentation
Platform
Illumina iSeq 100
Read type
Paired-end
Read length
150 bp
Reference genome
GRCh38
Mapping
Burrows-Wheeler Aligner v0.7.17
Mapping quality
N/A
Coverage (depth)
N/A
Coverage (breadth)
N/A
Data use policy
NBDC data sharing policy (JGAP000001)