NBDC Research ID: hum0163.v1



Aims: Identification of biomarkers associated with efficacy and adverse drug reactions in therapeutics for psychiatric/neurological disorders or cancers, leading to establishment of stratified medicine based on pharmacogenomic information.

Methods: DNA/plasma samples and clinical information are collected from patients with psychiatric/neurological disorders or cancers. Targeted NGS analysis focusing on 100 pharmacogenes, HLA typing, metabolome analysis, and pharmacokinetic analysis were conducted to identify biomarkers associated with drug responses.

Participants/Materials: Patients receiving psychotropic drugs (lamotrigine and clozapine), and patients receiving anti-cancer molecular targeted drugs (regorafenib, trastuzumab and nivolumab)


Data Set IDType of DataCriteriaRelease Date
hum0163.v1.freq.v1 NGS (Target Capture) Un-restricted Access 2018/12/14

*Release Note





990 patients with psychiatric/neurological disorders or cancers

    - epilepsy (ICD10: G402) / bipolar disorder (ICD10: F319): 343 cases (receiving lamotrigine)

    - schizophrenia (ICD10: F209): 454 cases

    - breast cancer (ICD10: C509): 65 cases (receiving trastuzumab)

    - colorectal cancer (ICD10: C189): 83 cases (receiving regorafenib)

    - malignant melanoma (ICD10: C439): 45 cases (receiving nivolumab)

Targets Target Capture
Target Loci for Capture Methods diplotype of coding regions of 100 pharmacogenes (1846 variants) and CYP2D6 gene
Platform Illumina [MiSeq]
Library Source DNAs extracted from peripheral blood cells
Cell Lines -
Library Construction (kit name) in-house MultiplexPCR
Fragmentation Methods -
Spot Type Paired-end
Read Length (without Barcodes, Adaptors, Primers, and Linkers) 250 bp x 2
NBDC Data Set ID


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Dictionary file

Total Data Volume 55 KB (csv.zip)
Comments (Policies) NBDC policy

*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



Principal Investigator: Taisei Mushiroda

Affiliation: RIKEN Center for Integrative Medical Sciences, Laboratory for Pharmacogenomics

Project / Group Name: -

URL: http://www.riken.jp/en/research/labs/ims/pharmacogen/

Funds / Grants (Research Project Number):

NameTitleProject Number
Advanced Genome Research and Bioinformatics Study to Facilitate Medical Innovation (GRIFIN), Platform Program for Promotion of Genome Medicine, Japan Agency for Medical Research and Development (AMED) Pharmacogenomics research for therapeutics in psychiatry, neurology and oncology 16km0405201h0001



TitleDOIData Set ID
1 GSTP1 rs1695 is associated with both hematological toxicity and prognosis of ovarian cancer treated with paclitaxel plus carboplatin combination chemotherapy: a comprehensive analysis using targeted resequencing of 100 pharmacogenes. doi: 10.18632/oncotarget.25712 hum0163.v1.freq.v1