SNUBI Research ::   (107 talks satisfying Presenter = 민병주)
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팀:   발표자:    제목/키워드:    날짜:   

08-17 민병주 Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease     J.Club
07-22 민병주 Development of NGS panel to analyze the effect of bacterial and host factors on Helicobacter pylori eradication therapy  TopicSem
06-17 민병주 Genomic variant analysis using leukemia target panel including 11 genes  TopicSem
06-08 민병주 Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia     J.Club
05-09 민병주 Application of next‑generation sequencing to analyze drug response in human leukemia  TopicSem
04-04 민병주 SNVs of multidrug efflux pump transporter genes in antibiotic-resistant H. pylori strains  TopicSem
03-30 민병주 An interactome perturbation framework prioritizes damaging missense mutations for developmental disorders     J.Club
02-28 민병주 Determinants and prediction of antibiotic resistance genotypes of host and &H.pylori  TopicSem
01-26 민병주 Genetic Determinants and Prediction of Antibiotic Resistance Phenotypes in Helicobacter pylori     J.Club
01-14 민병주 Combined analysis of Helicobacter pylori and host cytochrome p450 system  TopicSem

12-10 민병주 Application of next‑generation sequencing to analyze H pylori and host interactions  TopicSem
11-17 민병주 Application of next-generation sequencing to characterize novel mutations in clarithromycin-susceptible Helicobacter pylori strains with A2143G of 23S rRNA gene     J.Club
11-08 민병주 Detection of CYP2C19 Gene Polymorphisms in host and 16S/23S rRNA gene Polymorphisms in H.pylori  TopicSem
10-04 민병주 Optimal design of Helicobacter Pylori amplicon panel target region  TopicSem
09-15 민병주 Risks and Recommendations in Prenatally Detected De Novo Balanced Chromosomal Rearrangements from Assessment of Long-Term Outcomes     J.Club
08-23 민병주 Application of custom oligo to analyze 16S, 23S rRNA in Helicobacter Pylori  TopicSem
07-30 민병주 Application of NGS to characterize genetic variants in Helicobacter pylori strains and host genome  TopicSem
07-21 민병주 Germline de novo mutation clusters arise during oocyte aging in genomic regions with high double-strand-break incidence     J.Club
06-21 민병주 Ampliseq based ADR(+ PGx SNP) targeted panel  TopicSem
05-24 민병주 Somatic second hit mutation candidates in CNV-PTC patients  TopicSem
05-12 민병주 Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy     J.Club
04-19 민병주 CNV-PTC in a family with compound heterozygous APC gene mutations  TopicSem
03-15 민병주 Maternal Insertion of APC gene in female CMV-PTC patients  TopicSem
02-10 민병주 Reccurrent F8 Intronic Deletion Found in Mild Hemophilia A Causes Alu Exonization     J.Club
01-29 민병주 Disease mechanism prediction for female specific CMV-PTC  TopicSem
01-02 민병주 Compound hetero truncation mutations in APC Reveal CMV-PTC as a Familial Adenomatous Polyposis Variant  TopicSem

12-09 민병주 Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder     J.Club
11-29 민병주 Allele specific analysis of APC gene exonic region in the CMV-PTC affected sibling pair  TopicSem
10-25 민병주 Validation of disease related variants by using brain cancer panel  TopicSem
09-23 민병주 Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer- Associated Genes in Families Affected by Breast Cancer     J.Club
09-18 민병주 Germline and somatic APC variants in the CMV-PTC affected sibling pair  TopicSem
08-07 민병주 Validation of SNVs detected from Molecular pathology test by using KPCDx   TopicSem
07-29 민병주 Genetic variants associated with mosaic Y chromosome loss highlight cell cycle genes and overlap with cancer susceptibility     J.Club
07-10 민병주 Sequencing uniformity and genotype validation of KPCDx ver 2  TopicSem
06-05 민병주 Optimal design of target sequencing experiment by using KPCDx ver 2.0  TopicSem
05-20 민병주 Tumor-suppressor genes that escape from X-inactivation contribute to cancer sex bias     J.Club
04-26 민병주 NGS based cancer panel ver 2 design for actual target regions  TopicSem
03-22 민병주 NGS cancer panel design and experimental modification  TopicSem
03-04 민병주 InterVar: Clinical Interpretation of Genetic Variants by the 2015 ACMG-AMP Guidelines     J.Club
02-06 민병주 NGS Technology base Pan-cancer diagnostic panel  TopicSem

12-26 민병주 Changes in coagulation factor activity induced by F10 inhibitor  TopicSem
12-10 민병주 Point Mutations in Exon 1B of APC Reveal Gastric Adenocarcinoma and Proximal Polyposis of the Stomach as a Familial Adenomatous Polyposis Variant     J.Club
11-23 민병주 Genetic characteristic of factor X variants in human populations  TopicSem
10-10 민병주 Molecular defects in the factor X gene caused by heterozygous variant in EGF2 domain  TopicSem
09-10 민병주 Determinants of Power in Gene-Based Burden Testing for Monogenic Disorders     J.Club
08-17 민병주 Heterozygous variant in EGF2 domain of coagulation Factor X  TopicSem
07-13 민병주 Two structural variants in the CMV-PTC patients inherited from their parents  TopicSem
07-09 민병주 Frequency and Complexity of De Novo Structural Mutation in Autism     J.Club
06-15 민병주 Maternal germline mosaicism and new candidate variant in CMV-PTC  TopicSem
05-02 민병주 Candidate variant analysis to identify causal mutation for cribriform morular variant papillary thyroid carcinoma  TopicSem
04-23 민병주 Germline Mutations in Predisposition Genes in Pediatric Cancer     J.Club
03-28 민병주 Germline loss-of-function mutations to familial and sporadic schwannomatosis  TopicSem
02-15 민병주 Candidate variant analysis to identify cancer clearing genotype   TopicSem
02-13 민병주 Timing, rates and spectra of human germline mutation     J.Club
01-11 민병주 Candidate variant analysis to identify cancer clearing genotype  TopicSem

12-07 민병주 Candidate variant analysis to identify causal mutation for sporadic multiple schwannomas  TopicSem
12-05 민병주 Post-zygotic Point Mutations Are an Underrecognized Source of De Novo Genomic Variation     J.Club
11-02 민병주 Candidate variant analysis to identify cancer clearing genotype  TopicSem
09-21 민병주 Validation of Gly134Arg heterozygous variant in coagulation Factor X  TopicSem
09-12 민병주 Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling     J.Club
08-05 민병주 WES to identify cancer clearing genotype  TopicSem
07-01 민병주 NGS based pan-cancer diagnostic panel  TopicSem
06-20 민병주 Cancer genomics: one cell at a time     J.Club
06-01 민병주 Core cancer panel design for actual target regions  TopicSem
04-27 민병주 Customized Cancer Panel based on two sample types  TopicSem
04-11 민병주 Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas     J.Club
03-25 민병주 Cancer paenl design based on the combined methods for targeting  TopicSem
02-11 민병주 NGS panel design for cancer companion diagnostics of targeted chemotherapeutics  TopicSem
01-31 민병주 Inactivating Mutations in NPC1L1 and Protection from Coronary Heart Disease     J.Club

12-22 민병주 Targeted sequencing for 149 DNA samples by using PBAC6 panel  TopicSem
11-29 민병주 Refining analyses of copy number variation identifies specific genes associated with developmental delay     J.Club
11-17 민병주 Summary for PBAC6 sequencing panel  TopicSem
10-08 민병주 Performance comparison between low coverage semiconductor sequencing and aCGH to analyze copy number variation  TopicSem
09-13 민병주 Molecular defects in the factor X gene caused by novel heterozygous mutations     J.Club
08-20 민병주 A recurrent Gly134Arg substitution in coagulation Factor X  TopicSem
07-21 민병주 DNA Methylation Analysis using Ion Proton  TopicSem
07-12 민병주 Whole-genome DNA methylation profiling using MethylCap-seq     J.Club
06-23 민병주 Experimental modification for bisulfite sequencing using Ion Proton  TopicSem
05-21 민병주 Unmapped regions in Ampliseq exome sequencing  TopicSem
05-03 민병주 A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP     J.Club
04-23 민병주 Identification of maternal inherited causes of high functioning neuropsychiatric disorders  TopicSem
03-26 민병주 Identification of causes of neuropsychiatric disorders by using genomic data  TopicSem
03-15 민병주 A Higher Mutational Burden in Females Supports a ‘‘Female Protective Model’’ in Neurodevelopmental Disorders     J.Club
03-05 민병주 Experimental applications to validate cancer related genes  TopicSem
01-29 민병주 Properties and rates of germline mutations in humans  TopicSem
01-06 민병주 Rapid targeted sequencing using the ampliseq technology  TopicSem

12-21 민병주 Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability     J.Club
12-17 민병주 Target CpG site enrichment method for methylation sequencing  SysBiol
12-09 민병주 Methylated region detection by using WGBS & TBS  TopicSem
11-06 민병주 CNV Detection by using aCGH method  TopicSem
11-02 민병주 Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders     J.Club
10-14 민병주 Experimental approach for the diagnosis of mendelian disorders  TopicSem
10-05 민병주 Genome sequencing for healthy individuals  SysBiol
09-14 민병주 Detection of Clinically Relevant Genetic Variants in Autism Spectrum Disorder by Whole-Genome Sequencing     J.Club
09-11 민병주 Predicting non-coding RNAs using RNA sequencing  TopicSem
08-07 민병주 Expanding the phenotypic and molecular spectrum of desbuquois dysplasia Kim variant  TopicSem
07-27 민병주 Frequent somatic mutations in MAP3K5 and MAP3K9 in metastatic melanoma identified by exome sequencing     J.Club
07-17 민병주 Clinical Consequences in Truncating Mutations in Exon 34 of NOTCH2  TopicSem
07-16 민병주 Genetic rearrangement induced by LCR block  SysBiol
06-24 민병주 An interstitial, apparently-balanced chromosomal insertion in the etiology of Langer-Giedion syndrome in a Korea family  TopicSem
06-08 민병주 Exome sequencing supports a de novo mutational paradigm for schizophrenia     J.Club
05-29 민병주 An interstitial, apparently-balanced chromosomal insertion in the etiology of Langer-Giedion syndrome in a Korea family  TopicSem
05-21 민병주 Personal genome related DB review(3) - SNP Nexus   SysBiol
05-21 민병주 Personal genome related DB review(3) - SNP Nexus   SysBiol
05-06 민병주 Genomic analysis of Spondyloepimetaphyseal Dysplasia with Joint Laxity to identify the gene containing the causal mutations  TopicSem
04-16 민병주 Methylation Analysis of 10 Lymphoma(MALT type)  SysBiol
04-13 민병주 Germline BAP1 mutations predispose to malignant mesothelioma      J.Club

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