SNUBI Research ::   (117 talks satisfying Presenter = 서명의)
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04-20 서명의   TopicSem
04-04 서명의 Opposite modulation of RAC1 by mutations in TRIO is associated with distinct, domain-specific neurodevelopmental disorders     J.Club
03-23 서명의 Chromogenic activity evaluation of FX protein with mutant catalytic domain  TopicSem
02-24 서명의 Chromogenic activity of overexpressed F10 protein with mutant catalytic domain  TopicSem
01-18 서명의 Gain-of-function MN1 truncation variants cause a recognizable syndrome with craniofacial and brain abnormalities     J.Club
01-09 서명의 Application of next‑generation sequencing to analyze drug response in human leukemia by using the panel including 11 genes  TopicSem

12-05 서명의 Antibiotics resistance variants in Helicobacter pylori sequence identified from H.plyori panel sequencing  TopicSem
11-16 서명의 Diagnostic utility of Next-Generation Sequencing for Disorders of Somatic Mosaicism-a five-year cumulative cohort     J.Club
11-04 서명의 Target sequencing panel for Helicobacter pylori and host DNA  TopicSem
09-23 서명의 Deleterious variants in CYP2C19 Rapid metabolizer  TopicSem
08-24 서명의 Paralog studies augment gene discovery:DDX and DHX genes     J.Club
08-05 서명의 Comparison between full matrix and sparse matrix in CYP2C19 gene  TopicSem
07-04 서명의 Systematic mutagenesis and enzymatic activity assay for CYP2C19 gene  TopicSem
06-22 서명의 Length of uninterrupted CAG, independent of polyglutamine size, results in increased somatic instability, hastening onset of Huntington Disease     J.Club
05-27 서명의 Work flow for systematic mutagenesis candidate selection  TopicSem
04-18 서명의 Candidate variants in 12 genes for systematic mutagenesis  TopicSem
04-06 서명의 Variants of unknown significance in genes associated with heritable thoracic aortic disease can be low penetrant ‘‘risk variants’’     J.Club
03-11 서명의 Candidate variant selection for systematic mutagenesis and suitable activity assay  TopicSem
02-02 서명의 The malaria-protective human glycophorin structural variant DUP4 shows somatic mosaicism and association with hemoglobin levels     J.Club
01-24 서명의 Protein domain structure and star alleles of candidate proteins for mutagenesis  TopicSem

12-24 서명의 Protein domain structure of activity assay candidate proteins  TopicSem
12-01 서명의 Homozygous mutations in WEE2 cause fertilization failure and female infertility      J.Club
11-22 서명의 Chromogenic activity evaluation in catalytic domain of FX  TopicSem
10-22 서명의 Chromogenic activity of FX protein with variants and related protein structure  TopicSem
09-29 서명의 A dominantly inherited 5` UTR variant causing methylation-associated silencing of BRCA1 as a cause of breast and ovarian cancer      J.Club
09-10 서명의 Measuring activity of chromogenic FX protein with target variant  TopicSem
08-06 서명의 Overexpression of FX protein with target variant  TopicSem
07-28 서명의 Functional assays are essential for interpretation of missense variants associated with variable expressivity     J.Club
07-05 서명의 DNA transfection to 293 cell line for overexpression of FX with the variants  TopicSem
06-11 서명의 1000 genome variants in CYP2C19 gene  TopicSem
05-19 서명의 Antisense therapy for a common corneal dystrophy ameliorates TCF4 repeat expansion-mediated toxicity     J.Club
04-30 서명의 Mutagenesis and transformation for FX chromogenic activity assay  TopicSem
03-26 서명의 Additional variant selection for FX chromogenic activity assay  TopicSem
03-03 서명의 Disease model discovery from 3,328 gene knockouts by The International Mouse Phenotyping Consortium     J.Club
02-05 서명의 Site-direct mutagenesis for FX protein activity assay  TopicSem
01-08 서명의 Reinforcement for low coverage regions in DRP290 SNP Panel and LT Ampliseq WES  TopicSem

12-23 서명의 PGBD5 promotes site-specific oncogenic mutations in human tumors     J.Club
12-04 서명의 Experimental modification of Exome + DRP290 SNP Panel and 2nd test result  TopicSem
11-01 서명의 Design of Exome + DRP290 SNP Panel and experimental modification  TopicSem
10-21 서명의 Loss-of-function and gain-of-function mutations in KCNQ5 cause intellectual disability or epileptic encephalopathy     J.Club
09-20 서명의 Whole size FX cDNA library synthesis for cloning and activity assay data analysis plan  TopicSem
08-14 서명의 Synthesis cDNA library of FX gene from lymphoblast cell line  TopicSem
08-12 서명의 Evaluating the clinical validity of gene-disease associations an evidence-based framework developed by the clinical genome resource     J.Club
07-12 서명의 Preparing cDNA library of FX gene by using lymphoblast cell lines  TopicSem
06-12 서명의 FX cDNA library preparation by using lymphoblast cell lines  TopicSem
05-27 서명의 A common variant at the 14q32 endometrial cancer risk locus activates AKT1 through YY1 binding     J.Club
05-01 서명의 Treatment of lymphoblastoid cell line containing FX variants  TopicSem
03-29 서명의 Validation for candidate genes in familial-NMTC cases  TopicSem
03-11 서명의 Mutations in three genes encoding proteins involved in hair shaft formation cause uncombable hair syndrome     J.Club
02-08 서명의 Comparison of manual and semi-automatic NGS result  TopicSem

12-28 서명의 FNMTC candidate gene shared between two ns-FNMTC families  TopicSem
12-17 서명의 Sequencing the GRHL3 coding region reveals rare truncating mutations and a common susceptibility variant for nonsyndromic cleft palate     J.Club
11-28 서명의 FNMTC candidate gene validation using Sanger sequencing and THCA data  TopicSem
10-12 서명의 Experimental validation for candidate variants of FNMTC family  TopicSem
09-24 서명의 Parent-of-origin-specific signatures of de novo mutations     J.Club
08-31 서명의 Validation of candidate variants for the FNMTC family  TopicSem
07-18 서명의 WES analysis to detect shared causal genes in FNMTC families  TopicSem
07-16 서명의 Somatic activating mutations in GNAQ and GNA11 are associated with congenital hemangioma     J.Club
06-13 서명의 Rare indel variant analysis in WES data of FNMTC family  TopicSem
05-04 서명의 Rare variant analysis in FNMTC by sequencing 3 affected individuals and 2 unaffected family members  TopicSem
04-30 서명의 De novo loss-of-function mutations in USP9X cause a female-specific recognizable syndrome with developmental delay and congenital malformations     J.Club
03-30 서명의 Rare variant analysis in non-syndromic FNMTC families by using WES  TopicSem
02-27 서명의 Mutations in the transcriptional repressor REST predispose to Wilms tumor     J.Club
02-17 서명의 WES analysis of non-syndromic FNMTC by sequencing 3 affected individuals and an unaffected family member  TopicSem
01-13 서명의 Comparison of customized cancer core panel with ion cancer hotspot panel  TopicSem

12-12 서명의 Germline heterozygous variants in SEC23B are associated with Cowden Syndrome and enriched in apparently sporadic thyroid cancer     J.Club
12-09 서명의 Target sequencing by using cancer core panel for target therapies  TopicSem
11-04 서명의 Variant filtration to detect causal gene of non-syndromic FNMTC  TopicSem
09-23 서명의 WES analysis of non-syndromic FNMTC in two families  TopicSem
09-19 서명의 Germline HABP2 Mutation Causing Familial Nonmedullary Thyroid Cancer     J.Club
08-10 서명의 Causal gene identification of non-syndromic FNMTC by using WES data  TopicSem
07-06 서명의 Genome analysis of non-syndromic Familial NMTC  TopicSem
06-27 서명의 Copy-Number Variation of the Glucose Transporter Gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome     J.Club
06-03 서명의 Exome sequencing to detect inherited causes of FNMTC  TopicSem
04-29 서명의 Identification of inherited causes of FNMTC  TopicSem
04-18 서명의 A recurrent mutation in PARK2 is associated with familial lung cancer     J.Club
03-30 서명의 Study plan for to detect causal variants in FNMTC  TopicSem
02-16 서명의 Finding causal variants in Familial non medullary thyroid cancer (FNMTC)  TopicSem
01-31 서명의 TBX6 Null Variants and a Common Hypomorphic Allele in Congenital Scoliosis     J.Club

12-24 서명의 Comparison of cancer panel designs based on two major capture methods  TopicSem
12-06 서명의 Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease     J.Club
11-19 서명의 WES to detect abnormalities causing Yutopar side effects in pregnant women  TopicSem
10-13 서명의 NGS panel for Busulfan, COPD, 6MP, ADME Core and pharmacogenomic variants  TopicSem
09-13 서명의 A common missense variant in NUDT15 confers susceptibility to thiopurine-induced leukopenia     J.Club
08-20 서명의 Modified targeted cancer panel  TopicSem
07-23 서명의 Design targeted cancer panel using ampliseq method  TopicSem
07-19 서명의 Diagnosis of copy number variation by Illumina next generation sequencing is comparable in performance to oligonucleotide array comparative genomic hybridisation     J.Club
06-25 서명의 Targeted cancer panel to analysis multiple types of mutation  TopicSem
05-26 서명의 Experimental modification of Ampliseq sequencing  TopicSem
05-10 서명의 Loss-of-function mutations in SLC30A8 protect against type 2 diabetes     J.Club
04-21 서명의 DNA quality and NGS library preparation  TopicSem
03-31 서명의 Whole exome sequencing by using Ampliseq system  TopicSem
03-22 서명의 Using Whole-Exome Sequencing to Identify Inherited Causes of Autism     J.Club
03-03 서명의 Whole exome sequencing by using Ion Proton  TopicSem
02-03 서명의 Targeted sequencing system  TopicSem
01-08 서명의 Targeted sequencing using the target enrichment system  TopicSem

12-28 서명의 Assessing the phenotypic effects in the general population of rare variants in genes for a dominant Mendelian form of diabetes     J.Club
12-24 서명의 Experimental methods for RNA sequencing  SysBiol
12-11 서명의 PD-AMSCs RNA sequencing  TopicSem
11-06 서명의 rRNA Depletion and library prep for RNA sequencing  TopicSem
11-02 서명의 A new subtype of bone sarcoma defined by BCOR-CCNB3 gene fusion     J.Club
10-16 서명의 RNA sequencing by using Ion Proton   TopicSem
10-15 서명의 Finding the lost factors in exome sequencing data  SysBiol
09-14 서명의 Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss     J.Club
09-11 서명의 Ion Proton training sequencing  TopicSem
08-07 서명의 Genotyping using multiplexing fragment analysis method  TopicSem
08-06 서명의 Analysis of epigenetic modification by bisulfite conversion  SysBiol
08-03 서명의 Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas     J.Club
07-29 서명의 CpG island analysis for MALT lymphoma  TopicSem
07-27 서명의 CpG island analysis for personal genome interpretation  SysBiol
06-24 서명의 Chromosomal rearrangement analysis of bone abnormality with CNP overexpression  TopicSem
06-08 서명의 Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration     J.Club
06-04 서명의 Personal genome related DB review(4) - GWASdb  SysBiol
05-29 서명의 Chromosomal rearrangement analysis of bone abnormality with CNP overexpression  TopicSem
05-08 서명의 Genomic analysis of Retinitis Pigmentosa by using targeted exome capture sequencing  TopicSem
04-27 서명의 case report of Target sequencing and its validation in 22 family  SysBiol
04-13 서명의 Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA      J.Club

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