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 IDType of DataCriteriaRelease Date
JGAS000288 NGS (Target Capture, Target RNA-seq) Controlled-access (Type I) 2021/05/11

*Release Note

*Data users need to apply an application for Using NBDC Human Data to reach the Controlled-access Data. Learn more

 

MOLECULAR DATA

Target Capture

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

 

Target RNA-seq

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):

NameTitleProject 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

TitleDOIDataset 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 InvestigatorAffiliationCountry/RegionResearch TitleData 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