Important Notice

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About NBDC Human Database

An enormous amount of human data is being generated with advances in next-generation sequencing and other analytical technologies. We therefore need rules and mechanisms for organizing and storing such data and for effectively utilizing them to make progress in the life sciences.

To promote sharing and utilization of human data while considering the protection of personal information, the Database Center for Life Science (DBCLS) of the Joint Support-Center for Data Science Research, Research Organization of Information and Systems (ROIS-DS) created a platform for sharing various data generated from human specimens, which are available for publicly access in cooperation with the DNA Data Bank of JapanDDBJ logo ddbj 2013.

You can apply to use or submit human data through this website.

Violators of the guidelines who have not submitted a report on the deletion of Controlled-access data shall be disclosed here.

NBDC Research ID: hum0394.v2

 

SUMMARY

Aims: We perform spatial transcriptome analysis and other omics analyses, such as genome/epigenome sequencing and multiplexed immunofluorescence, using fresh-frozen and FFPE specimens of non-small cell lung cancers. We try to develop a novel stratification method for lung cancer patients by considering intratumor heterogeneity and conditions of complicated microenvironments of cancer tissues. We aim to characterize omics statuses of cancer cells and their surrounding stromal cells and immune cells, such as cancer-associated fibroblasts and tumor-infiltrating lymphocytes, at a spatial level and evaluate tumor cell-microenvironment relationships at a molecular level.

Methods: Spatial transcriptome sequencing Visium, high-performance in situ gene expression mapping Xenium, Multiplex Fluorescence Immunostaining, Whole Genome Sequencing and Targeted Long-Read Methylation Sequencing (t-nanoEM)

Participants/Materials:

     [Visium] 16 tumor sections from 8 non-small cell lung cancer patients

     [Xenium] Five tumor sections from 5 non-small cell lung cancer patients

     [WGS] 1 tumor section and 1 non-tumor section from 1 non-small cell lung cancer patient

     [t-nanoEM] Five microdissected tumor regions from 1 non-small cell lung cancer patient

 

Dataset IDType of DataCriteriaRelease Date
JGAS000613

NGS (Visium Spatial Gene Expression), Histological image

Xenium In Situ Gene Expression

Multiplex Fluorescence Immunostaining

Controlled-access (Type I) 2024/04/08
JGAS000757 NGS (WGS, t-nanoEM) Controlled-access (Type I) 2024/11/20

*Release Note

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

 

MOLECULAR DATA

Visium Spatial Gene Expression, Histological image

Participants/Materials

non-small cell lung cancer (ICD10: C349): 8 cases

      surgical section: 16 samples

Targets Visium Spatial Gene Expression
Target Loci for Capture Methods -
Platform Illumina [NovaSeq 6000]
Library Source RNAs extracted from surgical sections (fresh-frozen/FFPE)
Cell Lines -
Library Construction (kit name) Visium Spatial Gene Expression Reagent Kits
Fragmentation Methods -
Spot Type Paired-end
Read Length (without Barcodes, Adaptors, Primers, and Linkers)

fresh-frozen: 118 bp

FFPE: 78 bp

Software spaceranger-1.2.1, spaceranger-1.3.0
QC -
Japanese Genotype-phenotype Archive Dataset ID JGAD000742
Total Data Volume 479.7 GB (fastq, png, json, csv, tsv, mtx, cloupe, html)
Comments (Policies) NBDC policy

 

Xenium In Situ Gene Expression

Participants/Materials

non-small cell lung cancer (ICD10: C349): 5 cases

      surgical section: 5 samples

Targets Xenium In Situ Gene Expression
Target Loci for Capture Methods 302 genes (Human Lung panel: 202 genes, custom: 100 genes)
Platform 10x Genomics [Xenium Analyzer]
Source surgical sections (fresh-frozen/FFPE)
Cell Lines -
Reagents (Panel, Kit, Version)

Xenium Slides & Sample Prep Reagents

Xenium Decoding Reagents

Xenium Decoding Consumables

Software xenium-1.1.0.2, xenium-1.2.0.3
QC -
Japanese Genotype-phenotype Archive Dataset ID JGAD000742
Total Data Volume 479.7 GB (csv, h5, html, json, mtx, tiff, parquet, tsv, xenium, zarr)
Comments (Policies) NBDC policy

 

Multiplex Fluorescence Immunostaining

Participants/Materials

lung adenocarcinoma (ICD10: C349): 3 cases

          tumor tissues: 3 samples

Targets Multiplex Fluorescence Immunostaining
Target Loci for Capture Methods cycle/probe information
Platform Akoya Biosciences [PhenoCycler]
Library Source tumor tissues of lung adenocarcinomas
Cell Lines -
Cell Treatment Method (kit name) Staining Kit for PhenoCycler
Japanese Genotype-phenotype Archive Dataset ID JGAD000742
Total Data Volume 479.7 GB (qptiff)
Comments (Policies) NBDC policy

 

WGS

Participants/Materials

non-small cell lung cancer (ICD10: C349): 1 case

          tumor tissue: 1 sample (Illumina, Nanopore)

          non-tumor tissue: 1 sample (Illumina)

Targets WGS
Target Loci for Capture Methods -
Platform

Illumina [NovaSeq 6000]

Nanopore [PromethION]

Library Source DNAs extracted from tumor tissue and non-tumor tissue
Cell Lines -
Library Construction (kit name)

Illumina: TruSeq Nano DNA Library Prep Kit, NEBNext Ultra II DNA Library Prep Kit and NEBNext Multiplex Oligos for Illumina

Nanopore: Ligation Sequencing Kit V14 (SQK-LSK114)

Fragmentation Methods

Illumina: Ultrasonic fragmentation (Covaris)

Nanopore: -

Spot Type

Illumina: Paired-end

Nanopore: Single-end

Read Length (without Barcodes, Adaptors, Primers, and Linkers)

Illumina: 300 bp

Nanopore: 7,500 bp on average

Mapping Methods

Illumina: BWA-MEM

Nanopore: Guppy

Mapping Quality -
Reference Genome Sequence hg38
Coverage (Depth) Illumina: x44 (non-tumor tissue), x82 (tumor tissue)
Japanese Genotype-phenotype Archive Dataset ID JGAD000898
Total Data Volume 616.6 GB (fastq, bam)
Comments (Policies) NBDC policy

 

t-nanoEM

Participants/Materials

non-small cell lung cancer (ICD10: C349): 1 case

          five microdissected tumor regions: 1 sample

Targets t-nanoEM
Target Loci for Capture Methods Twist Alliance Pan-cancer Methylation Panel - 1.5 MB
Platform Nanopore [PromethION]
Source DNA extracted from tumor tissue sample
Cell Lines -
Library Construction (kit name)

NEBNext Enzymatic Methyl-seq Kit

The five libraries were pooled and subjected to target enrichment using the Twist Standard Hyb and Wash Kit v2 with a pan-cancer panel.

Fragmentation Methods Covaris g-TUBE
Spot Type Single-end
Read Length (without Barcodes, Adaptors, Primers, and Linkers) 4,800 bp on average
Japanese Genotype-phenotype Archive Dataset ID JGAD000898
Total Data Volume 616.6 GB (fastq)
Comments (Policies) NBDC policy

 

DATA PROVIDER

Principal Investigator: Ayako Suzuki

Affiliation: Laboratory of Medical Omics Data Analysis, Department of Computational Biology and Medical Sciences, Graduate School of Frontier Sciences, The University of Tokyo

Project / Group Name: -

Funds / Grants (Research Project Number):

NameTitleProject Number
KAKENHI Grant-in-Aid for Early-Career Scientists Development of spatial genome and transcriptome analytical methods in local regions of lung cancer tissues 21K15566

 

PUBLICATIONS

TitleDOIDataset ID
1
2

 

USRES (Controlled-access Data)

Principal InvestigatorAffiliationCountry/RegionResearch TitleData in Use (Dataset ID)Period of Data Use

hum0394 Release Note

Research IDRelease DateType of Data
hum0394.v2 2024/11/18 NGS (WGS, t-nanoEM)
hum0394.v1 2024/04/08 NGS (Visium Spatial Gene Expression), Xenium In Situ Gene Expression, Multiplex Fluorescence Immunostaining

 

hum0394.v2

- 1 tumor section and 1 non-tumor section from 1 non-small cell lung cancer patient were used for Whole Genome Sequencing. Fastq and bam files are provided.

- 1 sample of five microdissected tumor regions from 1 non-small cell lung cancer patient were used for Targeted Long-Read Methylation Sequencing (t-nanoEM). Fastq files are provided.

 

hum0394.v1

- 16 tumor sections from 8 non-small cell lung cancer patients were used for Visium Spatial Gene Expression Assay. Fastq, png, json, csv, tsv, mtx, cloupe, and html files are provided.

- 5 tumor sections from 5 non-small cell lung cancer patients were used for Xenium In Situ Gene Expression Assay. Csv, h5, html, json, mtx, tiff, parquet, tsv, xenium, and zarr files are provided.

- 3 tumor tissues from 3 non-small cell lung cancer patients were used for multiplex fluorescence immunostaining. Qptiff files are provided.

 

Note:

hum0466 Release Note

Research IDRelease DateType of Data
hum0466.v1 2024/11/20 GWAS for the JPSC-AD study

 

hum0466.v1

DNAs extracted from peripheral blood cells of 9,479 participants in the JPSC-AD study, were genotyped, imputed, and genome-wide association studies were performed (text file).

 

Note:

NBDC Research ID: hum0466.v1

 

SUMMARY

Aims: - Identification of risk and protective factors for dementia and depression

           - Elucidation of the overall picture of risk and protective factors for dementia and depression

           - Establishment of preventive strategy for dementia and depression

Methods: Genotyping, imputation, and genome-wide association study were performed.

Participants/Materials: Of the 9,479 community residents collected at the 8 facilities participating in the Japan Prospective Studies Collaboration for Aging and Dementia (JPSC-AD) study.

URL: https://www.eph.med.kyushu-u.ac.jp/jpsc/en/

Dataset IDType of DataCriteriaRelease Date
hum0466.v1.gwas.v1 GWAS for JPSC-AD study Unrestricted-access 2024/11/20

*Release Note

*When the research results including the data which were downloaded from NHA/DRA, are published or presented somewhere, the data user must refer the papers which are related to the data, or include in the acknowledgment. Learn more

 

MOLECULAR DATA

hum0466.v1.gwas.v1

Participants/Materials JPSC-AD study participants (ICD10: R90.8): 9,479 individuals
Targets Genome wide SNPs
Target Loci for Capture Methods -
Platform Japanese Screening Array-24 v1.0 Consortium BeadChip [Illumina]
Source DNAs extracted from peripheral blood cells
Cell Lines -
Reagents (Kit, Version) -
Genotype Call Methods (software)

Genotype call: GenomeStudio

Genotype imputation: Minimac4 v1.0.0

Imputation reference panel: whole genome sequences of 1,037 (BioBank Japan) and 2,504 (1000 Genomes Project (Phase 3v5)) (hum0014)

Association Analysis & Meta Analysis (software) BOLT-LMM
Filtering Methods

Sample QC: Gender discrepancy, sample call rate <98%, close relatives, and outliers (distance > 10sd short, 11sd long) were excluded.

Genotyping QC: Hardy-Weinberg equilibrium >1.0x10-6, call rate >99%, monomorphic, minor allele count <5, and frequency difference >6% with reference panel were excluded.

Post-imputation QC: Variants with minor allele frequency (MAF) <0.5% and Rsq <0.7 were excluded.

Marker Number (after QC) 8,495,153 variants
NBDC Dataset ID

hum0466.v1.gwas.v1

(Click the gwas number to download files)

Dictionary file

Total Data Volume 153.6 MB (txt)
Comments (Policies) NBDC policy

 

DATA PROVIDER

Principal Investigator: Toshiharu Ninomiya

Affiliation: Department of Epidemiology and Public Health, Graduate School of Medical Sciences, Kyushu University

Project / Group Name: JPSC-AD study

URL: https://www.eph.med.kyushu-u.ac.jp/jpsc/en/

Funds / Grants (Research Project Number):

Name Title Project Number
Research and Development Grants for Dementia, Japan Agency for Medical Research and Development (AMED) Genome and Neuroimaging Research on Dementia Based on Large-Scale Prospective Cohort Data JP24dk0207053
Suntory Holdings Limited - -

 

PUBLICATIONS

Title DOIDataset ID
1 Common protein-altering variant in GFAP is associated with white matter lesions in the older Japanese population. npj Genomic Med doi: 10.1038/s41525-024-00431-x hum0466.v1.gwas.v1

NBDC Research ID: hum0272.v3

 

SUMMARY

Aims: Analysis of gene expression and somatic gene mutation in tumor cells and immune cells using skin tumor samples such as melanoma

Methods: whole exome sequencing analysis, RNA sequencing analysis, scRNA sequencing analyses, scTCR sequencing analyses, and target capture sequencing

Participants/Materials: melanoma patients: 4 + 9 cases

 

Dataset IDType of DataCriteriaRelease Date
JGAS000285

NGS (Exome)

NGS (RNA-seq)

Controlled-access (Type I) 2021/12/20
JGAS000285 (Data addition)

NGS (Exome)

NGS (scRNA-seq)

NGS (scTCR-seq)

Controlled-access (Type I) 2022/02/07
JGAS000589 NGS (Target Capture) Controlled-access (Type I) 2024/11/13

*Release Note

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

 

MOLECULAR DATA

Exome

Participants/Materials

melanoma (ICD10: C439): 4 cases

    cultured tumor cells established from melanoma patients: 4 cases, 4 + 1 samples

    lymph node metastatic lesions: 1 case, 2 samples

Targets Exome
Target Loci for Capture Methods -
Platform Illumina [HiSeq 2500]
Library Source DNAs extracted from cultured tumor cells and lymph nodes
Cell Lines -
Library Construction (kit name) Hybrid Selection
Fragmentation Methods Captured / Adaptor ligation
Spot Type Paired-end
Read Length (without Barcodes, Adaptors, Primers, and Linkers) 92 bp (mean)
Japanese Genotype-phenotype Archive Dataset ID JGAD000391
Total Data Volume 99.6 + 628.8 GB (bam [ref: hg38])
Comments (Policies) NBDC policy

 

RNA-seq

Participants/Materials

melanoma (ICD10: C439): 4 cases

    cultured tumor cells established from melanoma patients: 4 cases, 4 samples

Targets RNA-seq
Target Loci for Capture Methods -
Platform Illumina [HiSeq 2500]
Library Source RNAs extracted from cultured tumor cells
Cell Lines -
Library Construction (kit name) Hybrid Selection
Fragmentation Methods Captured / Adaptor ligation
Spot Type Paired-end
Read Length (without Barcodes, Adaptors, Primers, and Linkers) 100 bp (mean)
Japanese Genotype-phenotype Archive Dataset ID JGAD000391
Total Data Volume 99.6 GB (fastq)
Comments (Policies) NBDC policy

 

scRNA-seq / scTCR-seq

Participants/Materials

melanoma (ICD10: C439): 3 cases

    tumor-infiltrating lymphocyte (TIL): 2 cases, 3 samples

    peripheral blood lymphocyte (PBL): 2 cases, 2 samples

    lymph node tumor-infiltrating lymphocyte (LN-TIL): 1 case, 2 samples

Targets scRNA-seq
Target Loci for Capture Methods -
Platform Illumina [HiSeq 2500]
Library Source RNAs extracted from TIL, PBL and LN-TIL
Cell Lines -
Library Construction (kit name) Single Cell Immune Profiling Solution Kit
Fragmentation Methods Hybrid Selection
Spot Type Paired-end
Read Length (without Barcodes, Adaptors, Primers, and Linkers) 100 bp (mean)
Japanese Genotype-phenotype Archive Dataset ID JGAD000391
Total Data Volume 628.8 GB (fastq)
Comments (Policies) NBDC policy

 

Target Capture

Participants/Materials

melanoma (ICD10: C439): 12 cases

    tumor cells: 19 samples

    peripheral blood cells: 12 samples

Targets Target Capture
Target Loci for Capture Methods Precision ID mtDNA Whole Genome Panel
Platform Thermo Fisher Scientific [Ion Torrent Proton]
Library Source DNAs extracted from tumor cells and peripheral blood cells
Cell Lines -
Library Construction (kit name)
Fragmentation Methods -
Spot Type Paired-end
Read Length (without Barcodes, Adaptors, Primers, and Linkers) 107 bp (mean)
Japanese Genotype-phenotype Archive Dataset ID JGAD000717
Total Data Volume 11.3 GB (fastq)
Comments (Policies) NBDC policy

 

DATA PROVIDER

Principal Investigator: Takashi Inozume

Affiliation: Department of Dermatology, Chiba University

Project / Group Name: Development of more effective immunotherapy for skin cancer

Funds / Grants (Research Project Number):

NameTitleProject Number
KAKENHI Grant-in-Aid for Scientific Research (C) Identification of essential biomarkers for efficacy of anti-PD-1 therapy 19K08744
KAKENHI Grant-in-Aid for Scientific Research (C) Analysis of tumor-specific T cells aimed at overcoming challenges with immune checkpoint inhibitors 22K08424
KAKENHI Grant-in-Aid for Scientific Research (B) Analysis of PD-1+ tumor-infiltrating T cells according to cancer antigen hierarchy 20H03694

 

PUBLICATIONS

TitleDOIDataset ID
1 TIGIT/CD155 axis mediates resistance to immunotherapy in patients with melanoma with the inflamed tumor microenvironment doi: 10.1136/jitc-2021-003134 JGAD000391
2

 

USRES (Controlled-access Data)

Principal InvestigatorAffiliationCountry/RegionResearch TitleData in Use (Dataset ID)Period of Data Use
Michiaki Hamada Faculty of Science and Engineering, Waseda University Japan Construction of RNA-targeted Drug Discovery Database JGAD000391 2022/12/26-2025/03/31
Takuya Yamamoto Laboratory of Precision Immunology, National Institutes of Biomedical Innovation, Health and Nutrition Japan Basic research for vaccine development against gastrointestinal cancer and malignant melanoma based on the identification of novel cancer antigens JGAD000391 2024/11/12-2025/09/01
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