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BioProject ID : KAP220193

Project title : Identification and validation of predictive markers of epilepsy susceptibility and therapeutic response by development of genome data analysis technology optimized to multifactorial diseases

Submitter

**Submitter**
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Name	Kim Myeong-Kyu
Organization	Chonnam National University Hospital
Department	Department of Neurology

Date

**Date**
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Registration Date	2022-04-12

Project Design

**Project Design**
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NTIS Number	-
Project Title	Identification and validation of predictive markers of epilepsy susceptibility and therapeutic response by development of genome data analysis technology optimized to multifactorial diseases
Relevance	medical
Description	"Key R&D Contents Year 1 ('16') First detail production of genomic information for epilepsy patients (Stage1 analysis) WES Noise-data Analysis R&D Content 1-1 Nationwide Multi-center Trial for Sampling (1) R&D Contents 1-2 Low-coverage Whole Exome Sequencing (1) R&D Content 2-1 WES Noise-data Analysis (in conjunction with the second detail) Second detail WES Noise-data Analyzer Interface Development Development of Statistical Analysis Method for Low-Coverage Genetic Data R&D Contents 2-2 WES Noise-data Analyzer Interface Development R&D Contents 2-3 Stage1 Genome-wide Association Study - Marker Selection for Stage2 Analysis (4-1 connection) R&D Content 3-1 Development of Statistical Analysis Method for Low-Coverage Genetic Data Year 2 ('17') First detail production of genomic information for epilepsy patients (Stage2 analysis) R&D Content 1-1 Nationwide Multi-center Trial for Sampling (2) R&D Contents 1-2 Low-coverage Whole Exome Sequencing (2) Target Sequencing (Selected Markers in Stage1) Second detail Development of statistical analysis methods and programs optimized for studies related to multi-factor diseases R&D Contents 2-3 2 Stage Joint Genome-wide Association Study R&D Content 3-2 1. Development of Multi-variant Association Test Statistics Considering Various Genetic Models 2. Develop user-friendly Multi-variant Association Test Program 3rd year ('18th year First detail Development of epilepsy sensitivity and therapeutic response predictors R&D Contents 1-2 Target Sequencing for Healthy Korean Genome R&D Contents 2-3 GWAS for Subset Analysis Second detail EEG sensitivity and treatment response prediction factor verification Verification of statistical analysis methods for studies related to multi-factor diseases R&D Content 4 Verification of the suitability of the statistical analysis method developed using Simulation research and actual data."
Project Data Type *	Exome
Sample Scope *	Multiisolate

Hierarchy

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Umbrella Project	-

Publications

**Publications**
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PubMed ID
DOI

Sample Group

BioSample Accession ID	Project Title	Sample Type	Registration Date
KASG220256	Identification and verification of anti-epileptic drug treatment effects and adverse reaction predictors through the development of genomic data analysis technology optimized for multifactorial diseases	Human sample	2022-04-12
KASG220259	Identification and verification of anti-epileptic drug treatment effects and adverse reaction predictors through the development of genomic data analysis technology optimized for multifactorial diseases	Human sample	2022-04-12
KASG220258	Identification and verification of anti-epileptic drug treatment effects and adverse reaction predictors through the development of genomic data analysis technology optimized for multifactorial diseases	Human sample	2022-04-12

Submitter’s other BioProjects

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BioProject Accession ID	Project Title	Sample Scope	Project Data Type	Registration Date
KAP220397	Development of Diagnostic Methods for Diabetes in High Risk Population Using Genetic and Proteomic Approach	Multiisolate	Exome	2022-07-26
KAP220193	Identification and validation of predictive markers of epilepsy susceptibility and therapeutic response by development of genome data analysis technology optimized to multifactorial diseases	Multiisolate	Exome	2022-04-12
KAP220401	Development of genetic biomarkers for early diagnosis and personalized medicine of precocious puberty	Multiisolate	Whole Genome sequencing	2022-07-26
KAP220190	Development of open innovation analysis platform for clinical cancer genome data	Multiisolate	Transcriptome or Gene Expression	2022-04-12
KAP220200	Development of personalized diagnosis and therapeutics for dark matters using somatic mutations in patient-derived tumor xenograft models maintaining tumor microenvironment.	Multiisolate	Exome	2022-04-12
KAP220195	Diagnostics to predict the progression of diabetic nephropathy using urinary exosomal microRNA	Multiisolate	Transcriptome or Gene Expression	2022-04-12
KAP220189	Identification of somatic mutations in malformed brain inducing epilepsy and development of diagnostic technology by using next generation sequencing	Multiisolate	Exome	2022-04-12
KAP220185	Development of high performance multiplex diagnostic technique and its clinical validation for genomic biomarkers in lung cancer	Multiisolate	Targeted Locus (Loci)	2022-04-12
KAP220192	International collaborative study on cancer onset mechanism of of Lysosomal Storage Disorder(LSD) by using epigenome data	Multiisolate	Targeted Locus (Loci)	2022-04-12
KAP220194	Development of thyroid cancer diagnostic system and therapeutics based on integrative genomic-epigenomic analysis	Multiisolate	Transcriptome or Gene Expression	2022-04-12
KAP220199	Development of Pharmacogenomic Target Sequencing Panel and Its Application to Precision Medicine	Multiisolate	Targeted Locus (Loci)	2022-04-12
KAP220196	Breast cancer prognosis predictive gene selection and expression analysis	Multiisolate	Transcriptome or Gene Expression	2022-04-12
KAP220186	Production of sequencing data and the assessment of the performance of high-performance cancer genome analysis software for certification of their clinical application	Multiisolate	Whole Genome sequencing	2022-04-12
KAP220183	Data Center for Genomic Medicine	Multiisolate	Transcriptome or Gene Expression	2022-04-12
KAP220191	Establishment and validation of drug sensitivity and resistance prediction models using PDTX-derived cancer whole-exome and transcriptome sequencing	Multiisolate	Transcriptome or Gene Expression	2022-04-12
KAP220402	Microbiome-based intestinal environment improvement effect verification and correlation analysis with intestinal flora	Environment	Metagenome	2022-07-26
KAP220396	Identification of RNA variant-based subtypes and prognostic markers in liver cancers	Multiisolate	Epigenomics	2022-07-26
KAP220399	Development of panel classifying molecular subtypes to discover therapeutic targets in triple-negative breast cancer	Multiisolate	Transcriptome or Gene Expression	2022-07-26
KAP220188	Validation of predictive biomarker for regorafenib response in metastatic colorectal cencer	Multiisolate	Exome	2022-04-12
KAP220197	Identification and validation of personalized gastric cancer biomarkers with disabled drug response induced by copy number variations, gene expression alterations, and fusion genes elucidated by genome and transcriptome sequencing	Multiisolate	Exome	2022-04-12
KAP220398	Development of Pharmacogenomic Target Sequencing Panel and Its Application to Precision Medicine	Multiisolate	Targeted Locus (Loci)	2022-07-26
KAP220198	Development of high-precision and high-performance multiomics cancer genome analysis software for targeted therapeutics and certification for clinical application	Multiisolate	Whole Genome sequencing	2022-04-12
KAP220184	Identification and functional analysis of targeted therapeutic marker for malignant lymphoma	Multiisolate	Whole Genome sequencing	2022-04-12
KAP220400	Development of thyroid cancer diagnostic system and therapeutics based on integrative genomic-epigenomic analysis	Multiisolate	Transcriptome or Gene Expression	2022-07-26
KAP220395	Identification and functional analysis of targeted therapeutic marker for malignant lymphoma	Multiisolate	Whole Genome sequencing	2022-07-26

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