SNUBI Research ::   (137 talks satisfying Presenter = 서명의)
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11 서명의   TopicSem
23 서명의 PGx of Host and Pathogen in Helicobacter Pylori Infection.  Seminar

15 서명의 Metabolic activity of mutant CYP2C19 with two types of substrates  TopicSem
27 서명의 De novo and bi-allelic pathogenic variants in NARS1 cause neurodevelopmental delay due to toxic gain-of-function and partial loss-of-function effects     J.Club

02 서명의 Genomic sequencing for newborn screening: results of the NC NEXUS project     J.Club
07 서명의 Variants associated with antibiotics in 23S ribosomal RNA gene of H.pylori  TopicSem
25 서명의 Known mutations in ribosomal binding site of rRNA genes of H.pylori  TopicSem

17 서명의 Sequencing result of NUDT15 and TPMT gene in 150 leukemia patients by using next-generation sequencing panel  TopicSem

02 서명의 Measuring enzyme activity of mutant CYP2C19 by using mephenytoin  TopicSem
21 서명의 Germline and mosaic variants in PRKACA and PRKACB cause a multiple congenital malformation syndrome     J.Club
26 서명의 Enzymatic activity of mutant CYP2C19 and variant impact prediction scores  TopicSem

08 서명의 Mutant CYP2C19 overexpression by using human cell system  TopicSem

07 서명의 Known mutations in H.pylori genome associated with Amoxicillin resistance and Metronidazole resistance phenotype  TopicSem
26 서명의 Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes     J.Club

01 서명의 De novo variants in SPOP cause two clinically distinct neurodevelopmental disorders     J.Club
20 서명의 CYP2C19 star allele for PPI treatment in Helicobacter pylori eradication therapy  TopicSem

16 서명의 Mutations associated with Tetracycline and Levofloxacin resistance phenotype in H.pylori  TopicSem

15 서명의 Variants in H.pylori associated with Clarithromycin resistance phenotype  TopicSem

18 서명의 F10 amino acid changes identified from symptomatic subjects of Factor X deficiency  TopicSem
30 서명의 SYCP2 translocation-mediated dysregulation and frameshift variants cause human male infertility     J.Club

04 서명의 Opposite modulation of RAC1 by mutations in TRIO is associated with distinct, domain-specific neurodevelopmental disorders     J.Club
20 서명의 FX activity evaluation by using recombinant FX mutant protein  TopicSem

23 서명의 Chromogenic activity evaluation of FX protein with mutant catalytic domain  TopicSem

24 서명의 Chromogenic activity of overexpressed F10 protein with mutant catalytic domain  TopicSem

09 서명의 Application of next‑generation sequencing to analyze drug response in human leukemia by using the panel including 11 genes  TopicSem
18 서명의 Gain-of-function MN1 truncation variants cause a recognizable syndrome with craniofacial and brain abnormalities     J.Club

05 서명의 Antibiotics resistance variants in Helicobacter pylori sequence identified from H.plyori panel sequencing  TopicSem

04 서명의 Target sequencing panel for Helicobacter pylori and host DNA  TopicSem
16 서명의 Diagnostic utility of Next-Generation Sequencing for Disorders of Somatic Mosaicism-a five-year cumulative cohort     J.Club

23 서명의 Deleterious variants in CYP2C19 Rapid metabolizer  TopicSem

05 서명의 Comparison between full matrix and sparse matrix in CYP2C19 gene  TopicSem
24 서명의 Paralog studies augment gene discovery:DDX and DHX genes     J.Club

04 서명의 Systematic mutagenesis and enzymatic activity assay for CYP2C19 gene  TopicSem

22 서명의 Length of uninterrupted CAG, independent of polyglutamine size, results in increased somatic instability, hastening onset of Huntington Disease     J.Club

27 서명의 Work flow for systematic mutagenesis candidate selection  TopicSem

06 서명의 Variants of unknown significance in genes associated with heritable thoracic aortic disease can be low penetrant ‘‘risk variants’’     J.Club
18 서명의 Candidate variants in 12 genes for systematic mutagenesis  TopicSem

11 서명의 Candidate variant selection for systematic mutagenesis and suitable activity assay  TopicSem

02 서명의 The malaria-protective human glycophorin structural variant DUP4 shows somatic mosaicism and association with hemoglobin levels     J.Club

24 서명의 Protein domain structure and star alleles of candidate proteins for mutagenesis  TopicSem

01 서명의 Homozygous mutations in WEE2 cause fertilization failure and female infertility      J.Club
24 서명의 Protein domain structure of activity assay candidate proteins  TopicSem

22 서명의 Chromogenic activity evaluation in catalytic domain of FX  TopicSem

22 서명의 Chromogenic activity of FX protein with variants and related protein structure  TopicSem

10 서명의 Measuring activity of chromogenic FX protein with target variant  TopicSem
29 서명의 A dominantly inherited 5` UTR variant causing methylation-associated silencing of BRCA1 as a cause of breast and ovarian cancer      J.Club

06 서명의 Overexpression of FX protein with target variant  TopicSem

05 서명의 DNA transfection to 293 cell line for overexpression of FX with the variants  TopicSem
28 서명의 Functional assays are essential for interpretation of missense variants associated with variable expressivity     J.Club

11 서명의 1000 genome variants in CYP2C19 gene  TopicSem

19 서명의 Antisense therapy for a common corneal dystrophy ameliorates TCF4 repeat expansion-mediated toxicity     J.Club

30 서명의 Mutagenesis and transformation for FX chromogenic activity assay  TopicSem

03 서명의 Disease model discovery from 3,328 gene knockouts by The International Mouse Phenotyping Consortium     J.Club
26 서명의 Additional variant selection for FX chromogenic activity assay  TopicSem

05 서명의 Site-direct mutagenesis for FX protein activity assay  TopicSem

08 서명의 Reinforcement for low coverage regions in DRP290 SNP Panel and LT Ampliseq WES  TopicSem

04 서명의 Experimental modification of Exome + DRP290 SNP Panel and 2nd test result  TopicSem
23 서명의 PGBD5 promotes site-specific oncogenic mutations in human tumors     J.Club

01 서명의 Design of Exome + DRP290 SNP Panel and experimental modification  TopicSem

21 서명의 Loss-of-function and gain-of-function mutations in KCNQ5 cause intellectual disability or epileptic encephalopathy     J.Club

20 서명의 Whole size FX cDNA library synthesis for cloning and activity assay data analysis plan  TopicSem

12 서명의 Evaluating the clinical validity of gene-disease associations an evidence-based framework developed by the clinical genome resource     J.Club
14 서명의 Synthesis cDNA library of FX gene from lymphoblast cell line  TopicSem

12 서명의 Preparing cDNA library of FX gene by using lymphoblast cell lines  TopicSem

12 서명의 FX cDNA library preparation by using lymphoblast cell lines  TopicSem

01 서명의 Treatment of lymphoblastoid cell line containing FX variants  TopicSem
27 서명의 A common variant at the 14q32 endometrial cancer risk locus activates AKT1 through YY1 binding     J.Club

11 서명의 Mutations in three genes encoding proteins involved in hair shaft formation cause uncombable hair syndrome     J.Club
29 서명의 Validation for candidate genes in familial-NMTC cases  TopicSem

08 서명의 Comparison of manual and semi-automatic NGS result  TopicSem

17 서명의 Sequencing the GRHL3 coding region reveals rare truncating mutations and a common susceptibility variant for nonsyndromic cleft palate     J.Club
28 서명의 FNMTC candidate gene shared between two ns-FNMTC families  TopicSem

28 서명의 FNMTC candidate gene validation using Sanger sequencing and THCA data  TopicSem

12 서명의 Experimental validation for candidate variants of FNMTC family  TopicSem

24 서명의 Parent-of-origin-specific signatures of de novo mutations     J.Club

31 서명의 Validation of candidate variants for the FNMTC family  TopicSem

16 서명의 Somatic activating mutations in GNAQ and GNA11 are associated with congenital hemangioma     J.Club
18 서명의 WES analysis to detect shared causal genes in FNMTC families  TopicSem

13 서명의 Rare indel variant analysis in WES data of FNMTC family  TopicSem

04 서명의 Rare variant analysis in FNMTC by sequencing 3 affected individuals and 2 unaffected family members  TopicSem

30 서명의 De novo loss-of-function mutations in USP9X cause a female-specific recognizable syndrome with developmental delay and congenital malformations     J.Club

30 서명의 Rare variant analysis in non-syndromic FNMTC families by using WES  TopicSem

17 서명의 WES analysis of non-syndromic FNMTC by sequencing 3 affected individuals and an unaffected family member  TopicSem
27 서명의 Mutations in the transcriptional repressor REST predispose to Wilms tumor     J.Club

13 서명의 Comparison of customized cancer core panel with ion cancer hotspot panel  TopicSem

09 서명의 Target sequencing by using cancer core panel for target therapies  TopicSem
12 서명의 Germline heterozygous variants in SEC23B are associated with Cowden Syndrome and enriched in apparently sporadic thyroid cancer     J.Club

04 서명의 Variant filtration to detect causal gene of non-syndromic FNMTC  TopicSem

19 서명의 Germline HABP2 Mutation Causing Familial Nonmedullary Thyroid Cancer     J.Club
23 서명의 WES analysis of non-syndromic FNMTC in two families  TopicSem

10 서명의 Causal gene identification of non-syndromic FNMTC by using WES data  TopicSem

06 서명의 Genome analysis of non-syndromic Familial NMTC  TopicSem

03 서명의 Exome sequencing to detect inherited causes of FNMTC  TopicSem
27 서명의 Copy-Number Variation of the Glucose Transporter Gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome     J.Club

18 서명의 A recurrent mutation in PARK2 is associated with familial lung cancer     J.Club
29 서명의 Identification of inherited causes of FNMTC  TopicSem

30 서명의 Study plan for to detect causal variants in FNMTC  TopicSem

16 서명의 Finding causal variants in Familial non medullary thyroid cancer (FNMTC)  TopicSem

31 서명의 TBX6 Null Variants and a Common Hypomorphic Allele in Congenital Scoliosis     J.Club

06 서명의 Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease     J.Club
24 서명의 Comparison of cancer panel designs based on two major capture methods  TopicSem

19 서명의 WES to detect abnormalities causing Yutopar side effects in pregnant women  TopicSem

13 서명의 NGS panel for Busulfan, COPD, 6MP, ADME Core and pharmacogenomic variants  TopicSem

13 서명의 A common missense variant in NUDT15 confers susceptibility to thiopurine-induced leukopenia     J.Club

20 서명의 Modified targeted cancer panel  TopicSem

19 서명의 Diagnosis of copy number variation by Illumina next generation sequencing is comparable in performance to oligonucleotide array comparative genomic hybridisation     J.Club
23 서명의 Design targeted cancer panel using ampliseq method  TopicSem

25 서명의 Targeted cancer panel to analysis multiple types of mutation  TopicSem

10 서명의 Loss-of-function mutations in SLC30A8 protect against type 2 diabetes     J.Club
26 서명의 Experimental modification of Ampliseq sequencing  TopicSem

21 서명의 DNA quality and NGS library preparation  TopicSem

03 서명의 Whole exome sequencing by using Ion Proton  TopicSem
22 서명의 Using Whole-Exome Sequencing to Identify Inherited Causes of Autism     J.Club
31 서명의 Whole exome sequencing by using Ampliseq system  TopicSem

03 서명의 Targeted sequencing system  TopicSem

08 서명의 Targeted sequencing using the target enrichment system  TopicSem

11 서명의 PD-AMSCs RNA sequencing  TopicSem
24 서명의 Experimental methods for RNA sequencing  SysBiol
28 서명의 Assessing the phenotypic effects in the general population of rare variants in genes for a dominant Mendelian form of diabetes     J.Club

02 서명의 A new subtype of bone sarcoma defined by BCOR-CCNB3 gene fusion     J.Club
06 서명의 rRNA Depletion and library prep for RNA sequencing  TopicSem

15 서명의 Finding the lost factors in exome sequencing data  SysBiol
16 서명의 RNA sequencing by using Ion Proton   TopicSem

11 서명의 Ion Proton training sequencing  TopicSem
14 서명의 Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss     J.Club

03 서명의 Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas     J.Club
06 서명의 Analysis of epigenetic modification by bisulfite conversion  SysBiol
07 서명의 Genotyping using multiplexing fragment analysis method  TopicSem

27 서명의 CpG island analysis for personal genome interpretation  SysBiol
29 서명의 CpG island analysis for MALT lymphoma  TopicSem

04 서명의 Personal genome related DB review(4) - GWASdb  SysBiol
08 서명의 Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration     J.Club
24 서명의 Chromosomal rearrangement analysis of bone abnormality with CNP overexpression  TopicSem

08 서명의 Genomic analysis of Retinitis Pigmentosa by using targeted exome capture sequencing  TopicSem
29 서명의 Chromosomal rearrangement analysis of bone abnormality with CNP overexpression  TopicSem

13 서명의 Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA      J.Club
27 서명의 case report of Target sequencing and its validation in 22 family  SysBiol

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