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BioProject ID : PRJKA220189

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Project title : Identification of somatic mutations in malformed brain inducing epilepsy and development of diagnostic technology by using next generation sequencing

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Name Kang Hoon Chul
Organization Yonsei University Industry-Academic Cooperation Foundation
Department Yonsei University Industry-Academic Cooperation Foundation

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Registration Date 2022-04-12

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NTIS Number -
Project Title Identification of somatic mutations in malformed brain inducing epilepsy and development of diagnostic technology by using next generation sequencing
Relevance medical
Description "□ Stage 1 (2015-2016) Establishment of clinical cohort and genetic banking system of brain malformed patients causing epilepsy and discovery of somatic mutations ○ Establish a cohort of clinical samples and clinical data of brain tissue and blood that causes epilepsy, and establish a genetic DNA quality management system using genetic banks. ○ Using whole exome sequencing (hereinafter referred to as WES), the somatic mutation that causes epilepsy was first explored and discovered. □ Step 2 (2016-2017) Additional discovery of somatic mutations and biological verification ○ In addition to whole genome sequencing (WGS) for non-coding region search in brain tissue where somatic mutations have not been discovered in the primary search, somatic mutations are further explored and discovered using single cell sequencing. ○ Molecular biological and histopathological function verification according to the metabolic pathway of discovered somatic mutations and an animal model using electrical perforation method are constructed to reproduce epilepsy-induced brain deformities. □ 3rd stage (2017-2018) Genetic diagnostic technology development and preclinical verification ○ Molecular genetic verification was performed by developing an NGS-based diagnostic gene panel for early diagnosis of epilepsy-induced cerebral deformity. ○ Re-verified the usefulness of the diagnostic gene panel through preliminary clinical research."
Project Data Type * Exome
Sample Scope * Multiisolate

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Sample Group

BioSample
Accession ID
Project Title Sample Type Registration Date
GSAMK220246 Molecular genetic analysis of Malformation of Cortical Development in Epilepsy Patients Human sample 2022-04-12
GSAMK220253 Moleuclar Genetic Analysis of Malformation of Cortical Development (MCD) in Patient with epileptic surgery Human sample 2022-04-12

Submitters’s Submissions

BioProject
Accession ID
Project Title Sample Scope Project Data Type Registration
Date
PRJKA220397 Development of Diagnostic Methods for Diabetes in High Risk Population Using Genetic and Proteomic Approach Multiisolate Exome 2022-07-26
PRJKA220193 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
PRJKA220401 Development of genetic biomarkers for early diagnosis and personalized medicine of precocious puberty Multiisolate Whole Genome sequencing 2022-07-26
PRJKA220190 Development of open innovation analysis platform for clinical cancer genome data Multiisolate Transcriptome or Gene Expression 2022-04-12
PRJKA220200 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
PRJKA220195 Diagnostics to predict the progression of diabetic nephropathy using urinary exosomal microRNA Multiisolate Transcriptome or Gene Expression 2022-04-12
PRJKA220189 Identification of somatic mutations in malformed brain inducing epilepsy and development of diagnostic technology by using next generation sequencing Multiisolate Exome 2022-04-12
PRJKA220185 Development of high performance multiplex diagnostic technique and its clinical validation for genomic biomarkers in lung cancer Multiisolate Targeted Locus (Loci) 2022-04-12
PRJKA220192 International collaborative study on cancer onset mechanism of of Lysosomal Storage Disorder(LSD) by using epigenome data Multiisolate Targeted Locus (Loci) 2022-04-12
PRJKA220194 Development of thyroid cancer diagnostic system and therapeutics based on integrative genomic-epigenomic analysis Multiisolate Transcriptome or Gene Expression 2022-04-12
PRJKA220199 Development of Pharmacogenomic Target Sequencing Panel and Its Application to Precision Medicine Multiisolate Targeted Locus (Loci) 2022-04-12
PRJKA220196 Breast cancer prognosis predictive gene selection and expression analysis Multiisolate Transcriptome or Gene Expression 2022-04-12
PRJKA220186 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
PRJKA220183 Data Center for Genomic Medicine Multiisolate Transcriptome or Gene Expression 2022-04-12
PRJKA220191 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
PRJKA220402 Microbiome-based intestinal environment improvement effect verification and correlation analysis with intestinal flora Environment Metagenome 2022-07-26
PRJKA220396 Identification of RNA variant-based subtypes and prognostic markers in liver cancers Multiisolate Epigenomics 2022-07-26
PRJKA220399 Development of panel classifying molecular subtypes to discover therapeutic targets in triple-negative breast cancer Multiisolate Transcriptome or Gene Expression 2022-07-26
PRJKA220188 Validation of predictive biomarker for regorafenib response in metastatic colorectal cencer Multiisolate Exome 2022-04-12
PRJKA220197 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
PRJKA220398 Development of Pharmacogenomic Target Sequencing Panel and Its Application to Precision Medicine Multiisolate Targeted Locus (Loci) 2022-07-26
PRJKA220198 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
PRJKA220184 Identification and functional analysis of targeted therapeutic marker for malignant lymphoma Multiisolate Whole Genome sequencing 2022-04-12
PRJKA220400 Development of thyroid cancer diagnostic system and therapeutics based on integrative genomic-epigenomic analysis Multiisolate Transcriptome or Gene Expression 2022-07-26
PRJKA220395 Identification and functional analysis of targeted therapeutic marker for malignant lymphoma Multiisolate Whole Genome sequencing 2022-07-26
PRJKA220214 Genome Analysis of Marine and Fisheries Organisms and Development of Functional Application Monoisolate Whole Genome sequencing,Transcriptome or Gene Expression 2022-04-27

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