NBDC Research ID: hum0131.v1



Aims: Transcriptome analysis for Williams Syndrome (WS)

Methods: RNA-sequencing

Participants/Materials: WS patients and healthy adult individuals


Data Set IDType of DataCriteriaRelease Date
JGAS00000000132 NGS (RNA-seq) Controlled Access (Type I) 2018/11/20

*Release Note

* Data users need to apply the Form 2 (Application Form for Using NBDC Human Data) to reach the Controlled Access Data. Learn more





6 WS patients (ICD10: Q253)

8 healthy adults as controls

Targets RNA-seq
Target Loci for Capture Methods -
Platform Thermo Fisher Scientific [Ion Proton]
Library Source RNAs extracted from peripheral blood cells
Cell Lines -
Library Construction (kit name) Ion Total RNA-Seq Kit v2
Fragmentation Methods Low input RiboMinus Eukaryote System v2
Spot Type Single-end
Read Length (without Barcodes, Adaptors, Primers, and Linkers) 100 bp
Japanese Genotype-phenotype Archive Data set ID JGAD00000000143
Total Data Volume 54 GB (fastq, txt [Transcripts Per Kilo-base Million: TPM])
Comments (Policies) NBDC policy and Company User Limit



Principal Investigator: Ryo Kimura

Affiliation: Department of Anatomy and Developmental Biology, Graduate School of Medicine, Kyoto University

Project / Group Name: -

Funds / Grants (Research Project Number):

NameTitleProject Number
Core Research and Evolutional Science and Technology, Advanced Research & Development Programs for Medical Innovation, Japan Agency for Medical Research and Development (AMED-CREST) Drug discovery for autism spectrum disorder based on epigenetic research JP16gm0510008
KAKENHI Grant-in-Aid for Scientific Research (C) Integrative network analysis of Williams syndrome 16K09965



TitleDOIData Set ID
1 Integrative network analysis reveals biological pathways associated with Williams syndrome doi: 10.1111/jcpp.12999 JGAD00000000143


USRES (Controlled-Access Data)

Principal Investigator: Affiliation: Data in Use (Data Set ID)Period of Data Use