NBDC Research ID: hum0375.v1
SUMMARY
Aims: To clarify the responsible genes for phenotypes of tuberous sclerosis.
Methods: Whole exome sequencing analysis
Participants/Materials: The patients with tuberous sclerosis complex (TSC)
| Data Set ID | Type of Data | Criteria | Release Date |
|---|---|---|---|
| JGAS000688 | NGS (Exome) | Controlled Access (Type I) | 2025/05/20 |
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MOLECULAR DATA
| Participants/Materials | TSC (ICD10: Q851): 163 cases |
| Targets | Exome |
| Target Loci for Capture Methods | - |
| Platform | Illumina [HiSeq 2500] |
| Library Source | DNAs extracted from peripheral blood cells |
| Cell Lines | - |
| Library Construction (kit name) | SureSelectXT Human All Exon Kit V5, SureSelectXT Reagent Kit |
| Fragmentation Methods | Ultrasonic fragmentation (Covaris LE220) |
| Spot Type | Paired-end |
| Read Length (without Barcodes, Adaptors, Primers, and Linkers) | 100 bp |
| Mapping Methods | BWA |
| Mapping Quality | - |
| Reference Genome Sequence | UCSC hg19 |
| Coverage (Depth) | average depth 61 |
| Filtering (QC) | Variants across all genes were classified after excluding synonymous mutations and those with an allele frequency < 1% or an applicant with a genetic mutation not registered in the database (National Center for Biotechnology Information (NCBI), UCSC Genome Browser (UCSC), and Ensembl). |
| Japanese Genotype-phenotype Archive Data set ID | JGAD000821 |
| Total Data Volume | 15.2 GB (vcf) |
| Comments (Policies) | NBDC policy |
DATA PROVIDER
Principal Investigator: Mari Wataya-Kaneda
Affiliation: Department of Neurocutaneous Medicine, Division of Health Science, Graduate School of Medicine, Osaka University
Project / Group Name: -
Funds / Grants (Research Project Number):
| Name | Title | Project Number |
|---|---|---|
| KAKENHI Grant-in-Aid for Challenging Research (Pioneering) | Elucidation of a novel drug delivery mechanism from the skin to the brain bypassing the blood-brain barrier | 22K18392 |
PUBLICATIONS
| Title | DOI | Data Set ID | |
|---|---|---|---|
| 1 | Genotype–phenotype correlation for skin and neuropsychiatric features in tuberous sclerosis complex | doi:10.1093/bjd/ljaf038 | JGAD000821 |
USRES (Controlled-Access Data)
| Principal Investigator | Affiliation | Country/Region | Research Title | Data in Use (Dataset ID) | Period of Data Use |
|---|---|---|---|---|---|
