03 | . | TopicSem | ||
12 | . | J.Club | ||
28 | . | TopicSem |
04 | Ampliseq panel for variants associated with antibiotics resistance in H.pylori | TopicSem |
07 | NGS platform for Helicobacter pylori ampliseq panel | TopicSem | ||
23 | Position effects at the FGF8 locus are associated with femoral hypoplasia | J.Club |
02 | Comparison with AML H. pylori antibiotic resistance NGS panel | TopicSem | ||
02 | Comparison with AML H. pylori antibiotic resistance NGS panel | TopicSem |
14 | Comparison of culture with antibiogram to NGS using bacterial isolates and formalin fixed paraffin embedded gastric biopsies | J.Club |
29 | Scale down the target ampliseq panel of host whole exome plus H.pylori genes for clinical application | TopicSem |
12 | High-throughput reclassification of SCN5A variant | J.Club | ||
21 | Comparison of Helicobacter pylori ampliseq panel and DPO-PCR method | TopicSem |
06 | Individual antibiotics resistance profiles for antibiotics used in H.pylori therapy | TopicSem |
05 | Helicobacter pylori panel validation result | TopicSem | ||
17 | Strong functional data for pathogenicity or neutrality classify BRCA2 DNA-binding-domain variants of uncertain significance | J.Club |
17 | Sequencing result of NUDT15 and TPMT gene in 150 leukemia patients by using next-generation sequencing panel | TopicSem |
08 | Mutant CYP2C19 overexpression by using human cell system | TopicSem |
01 | De novo variants in SPOP cause two clinically distinct neurodevelopmental disorders | J.Club | ||
20 | CYP2C19 star allele for PPI treatment in Helicobacter pylori eradication therapy | TopicSem |
16 | Mutations associated with Tetracycline and Levofloxacin resistance phenotype in H.pylori | TopicSem |
15 | Variants in H.pylori associated with Clarithromycin resistance phenotype | TopicSem |
23 | Chromogenic activity evaluation of FX protein with mutant catalytic domain | TopicSem |
24 | Chromogenic activity of overexpressed F10 protein with mutant catalytic domain | TopicSem |
05 | Antibiotics resistance variants in Helicobacter pylori sequence identified from H.plyori panel sequencing | TopicSem |
04 | Target sequencing panel for Helicobacter pylori and host DNA | TopicSem | ||
16 | Diagnostic utility of Next-Generation Sequencing for Disorders of Somatic Mosaicism-a five-year cumulative cohort | J.Club |
23 | Deleterious variants in CYP2C19 Rapid metabolizer | TopicSem |
05 | Comparison between full matrix and sparse matrix in CYP2C19 gene | TopicSem | ||
24 | Paralog studies augment gene discovery:DDX and DHX genes | J.Club |
04 | Systematic mutagenesis and enzymatic activity assay for CYP2C19 gene | TopicSem |
22 | Length of uninterrupted CAG, independent of polyglutamine size, results in increased somatic instability, hastening onset of Huntington Disease | J.Club |
27 | Work flow for systematic mutagenesis candidate selection | TopicSem |
11 | Candidate variant selection for systematic mutagenesis and suitable activity assay | TopicSem |
02 | The malaria-protective human glycophorin structural variant DUP4 shows somatic mosaicism and association with hemoglobin levels | J.Club |
24 | Protein domain structure and star alleles of candidate proteins for mutagenesis | TopicSem |
01 | Homozygous mutations in WEE2 cause fertilization failure and female infertility | J.Club | ||
24 | Protein domain structure of activity assay candidate proteins | TopicSem |
22 | Chromogenic activity evaluation in catalytic domain of FX | TopicSem |
22 | Chromogenic activity of FX protein with variants and related protein structure | TopicSem |
06 | Overexpression of FX protein with target variant | TopicSem |
11 | 1000 genome variants in CYP2C19 gene | TopicSem |
19 | Antisense therapy for a common corneal dystrophy ameliorates TCF4 repeat expansion-mediated toxicity | J.Club |
30 | Mutagenesis and transformation for FX chromogenic activity assay | TopicSem |
03 | Disease model discovery from 3,328 gene knockouts by The International Mouse Phenotyping Consortium | J.Club | ||
26 | Additional variant selection for FX chromogenic activity assay | TopicSem |
05 | Site-direct mutagenesis for FX protein activity assay | TopicSem |
08 | Reinforcement for low coverage regions in DRP290 SNP Panel and LT Ampliseq WES | TopicSem |
04 | Experimental modification of Exome + DRP290 SNP Panel and 2nd test result | TopicSem | ||
23 | PGBD5 promotes site-specific oncogenic mutations in human tumors | J.Club |
01 | Design of Exome + DRP290 SNP Panel and experimental modification | TopicSem |
21 | Loss-of-function and gain-of-function mutations in KCNQ5 cause intellectual disability or epileptic encephalopathy | J.Club |
20 | Whole size FX cDNA library synthesis for cloning and activity assay data analysis plan | TopicSem |
12 | Preparing cDNA library of FX gene by using lymphoblast cell lines | TopicSem |
12 | FX cDNA library preparation by using lymphoblast cell lines | TopicSem |
01 | Treatment of lymphoblastoid cell line containing FX variants | TopicSem | ||
27 | A common variant at the 14q32 endometrial cancer risk locus activates AKT1 through YY1 binding | J.Club |
11 | Mutations in three genes encoding proteins involved in hair shaft formation cause uncombable hair syndrome | J.Club | ||
29 | Validation for candidate genes in familial-NMTC cases | TopicSem |
08 | Comparison of manual and semi-automatic NGS result | TopicSem |
28 | FNMTC candidate gene validation using Sanger sequencing and THCA data | TopicSem |
12 | Experimental validation for candidate variants of FNMTC family | TopicSem |
24 | Parent-of-origin-specific signatures of de novo mutations | J.Club |
31 | Validation of candidate variants for the FNMTC family | TopicSem |
16 | Somatic activating mutations in GNAQ and GNA11 are associated with congenital hemangioma | J.Club | ||
18 | WES analysis to detect shared causal genes in FNMTC families | TopicSem |
13 | Rare indel variant analysis in WES data of FNMTC family | TopicSem |
04 | Rare variant analysis in FNMTC by sequencing 3 affected individuals and 2 unaffected family members | TopicSem |
30 | De novo loss-of-function mutations in USP9X cause a female-specific recognizable syndrome with developmental delay and congenital malformations | J.Club |
30 | Rare variant analysis in non-syndromic FNMTC families by using WES | TopicSem |
13 | Comparison of customized cancer core panel with ion cancer hotspot panel | TopicSem |
04 | Variant filtration to detect causal gene of non-syndromic FNMTC | TopicSem |
19 | Germline HABP2 Mutation Causing Familial Nonmedullary Thyroid Cancer | J.Club | ||
23 | WES analysis of non-syndromic FNMTC in two families | TopicSem |
10 | Causal gene identification of non-syndromic FNMTC by using WES data | TopicSem |
06 | Genome analysis of non-syndromic Familial NMTC | TopicSem |
03 | Exome sequencing to detect inherited causes of FNMTC | TopicSem | ||
27 | Copy-Number Variation of the Glucose Transporter Gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome | J.Club |
18 | A recurrent mutation in PARK2 is associated with familial lung cancer | J.Club | ||
29 | Identification of inherited causes of FNMTC | TopicSem |
30 | Study plan for to detect causal variants in FNMTC | TopicSem |
16 | Finding causal variants in Familial non medullary thyroid cancer (FNMTC) | TopicSem |
31 | TBX6 Null Variants and a Common Hypomorphic Allele in Congenital Scoliosis | J.Club |
06 | Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease | J.Club | ||
24 | Comparison of cancer panel designs based on two major capture methods | TopicSem |
19 | WES to detect abnormalities causing Yutopar side effects in pregnant women | TopicSem |
13 | NGS panel for Busulfan, COPD, 6MP, ADME Core and pharmacogenomic variants | TopicSem |
13 | A common missense variant in NUDT15 confers susceptibility to thiopurine-induced leukopenia | J.Club |
20 | Modified targeted cancer panel | TopicSem |
25 | Targeted cancer panel to analysis multiple types of mutation | TopicSem |
10 | Loss-of-function mutations in SLC30A8 protect against type 2 diabetes | J.Club | ||
26 | Experimental modification of Ampliseq sequencing | TopicSem |
21 | DNA quality and NGS library preparation | TopicSem |
03 | Whole exome sequencing by using Ion Proton | TopicSem | ||
22 | Using Whole-Exome Sequencing to Identify Inherited Causes of Autism | J.Club | ||
31 | Whole exome sequencing by using Ampliseq system | TopicSem |
03 | Targeted sequencing system | TopicSem |
08 | Targeted sequencing using the target enrichment system | TopicSem |
02 | A new subtype of bone sarcoma defined by BCOR-CCNB3 gene fusion | J.Club | ||
06 | rRNA Depletion and library prep for RNA sequencing | TopicSem |
15 | Finding the lost factors in exome sequencing data | SysBiol | ||
16 | RNA sequencing by using Ion Proton | TopicSem |
11 | Ion Proton training sequencing | TopicSem | ||
14 | Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss | J.Club |
27 | CpG island analysis for personal genome interpretation | SysBiol | ||
29 | CpG island analysis for MALT lymphoma | TopicSem |
08 | Genomic analysis of Retinitis Pigmentosa by using targeted exome capture sequencing | TopicSem | ||
29 | Chromosomal rearrangement analysis of bone abnormality with CNP overexpression | TopicSem |
13 | Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA | J.Club | ||
27 | case report of Target sequencing and its validation in 22 family | SysBiol |