NBDC Research ID: hum0271.v1
SUMMARY
Aims: Analyze the genetic factors involved in the expression and severity of the neurofibromatosis type 1 phenotype
Methods: Using patient-derived peripheral blood, whole regional DNA sequencing and mRNA variant analysis of NF1 are performed to extract mutations and polymorphisms involved in disease severity.
Participants/Materials: Patients with neurofibromatosis type 1
| Dataset ID | Type of Data | Criteria | Release Date |
|---|---|---|---|
| JGAS000288 | NGS (Target Capture, Target RNA-seq) | Controlled-access (Type I) | 2021/05/11 |
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MOLECULAR DATA
| Participants/Materials | Neurofibromatosis type 1 (ICD10: Q85.0): 20 cases |
| Targets | Target Capture |
| Target Loci for Capture Methods | NF1 gene |
| Platform | Illumina [MiSeq] |
| Library Source | DNAs extracted from peripheral blood cells |
| Cell Lines | - |
| Library Construction (kit name) | Nextera DNA Flex Library Prep |
| Fragmentation Methods | Nextera DNA Flex Library Prep |
| Spot Type | Paired-end or Single-end |
| Read Length (without Barcodes, Adaptors, Primers, and Linkers) | 400 bp |
| Japanese Genotype-phenotype Archive Dataset ID | JGAD000394 |
| Total Data Volume | 1.7 GB (fastq) |
| Comments (Policies) | NBDC policy |
| Participants/Materials | Neurofibromatosis type 1 (ICD10: Q85.0): 20 cases |
| Targets | Target RNA-seq |
| Target Loci for Capture Methods | NF1 gene |
| Platform | Illumina [MiSeq] |
| Library Source | mRNAs extracted from peripheral blood cells |
| Cell Lines | - |
| Library Construction (kit name) | Reverse-transcribed by using of SMART-Seq HT Kit (Takara Bio) and amplified NF1 gene region, then library was constructed by using of Nextera DNA Flex Library Prep kit |
| Fragmentation Methods | Nextera DNA Flex Library Prep |
| Spot Type | Paired-end |
| Read Length (without Barcodes, Adaptors, Primers, and Linkers) | 400 bp |
| Japanese Genotype-phenotype Archive Dataset ID | JGAD000394 |
| Total Data Volume | 1.7 GB (fastq) |
| Comments (Policies) | NBDC policy |
DATA PROVIDER
Principal Investigator: Yo Niida
Affiliation: Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University
Project / Group Name: -
URL： http://mri-genome-medicine.kanazawa-med.labos.ac/one/en/
Funds / Grants (Research Project Number):
| Name | Title | Project Number |
|---|---|---|
| The Tokumori Yasumoto Memorial Trust for Researches on Tuberous Sclerosis Complex and Related Rare Neurological Diseases | Analysis of the effect of individual differences in TSC gene mRNA processing on the severity of tuberous sclerosis complex | 2019 |
PUBLICATIONS
| Title | DOI | Dataset ID | |
|---|---|---|---|
| 1 | Optimization and Validation of Multimodular, Long-Range PCR-Based Next-Generation Sequencing Assays for Comprehensive Detection of Mutation in Tuberous Sclerosis Complex | doi: 10.1016/j.jmoldx.2020.12.009 | JGAD000394 |
| 2 | Application of Combined Long Amplicon Sequencing (CoLAS) for Genetic Analysis of Neurofibromatosis Type 1: A Pilot Study | doi: 10.3390/cimb43020057 | JGAD000394 |
USRES (Controlled-access Data)
| Principal Investigator | Affiliation | Country/Region | Research Title | Data in Use (Dataset ID) | Period of Data Use |
|---|---|---|---|---|---|
| Satoshi Yuhara | Bioinformatics section, SRL inc. | Japan | Validation of Rare Disease Clinical Reporting System | JGAD000394 | 2024/07/01-2027/03/31 |
