A5000596239- Genomics and Rare Diseases
- Multiple Myeloma Research and Treatments
- Cancer Genomics and Diagnostics
- Protein Degradation and Inhibitors
- Muscle Physiology and Disorders
- Glycosylation and Glycoproteins Research
- Acute Myeloid Leukemia Research
- Genomic variations and chromosomal abnormalities
- Non-Destructive Testing Techniques
- Medical Imaging and Pathology Studies
- Welding Techniques and Residual Stresses
- CNS Lymphoma Diagnosis and Treatment
- Lymphoma Diagnosis and Treatment
- Cutaneous lymphoproliferative disorders research
- CAR-T cell therapy research
- Inflammatory Myopathies and Dermatomyositis
- Amyloidosis: Diagnosis, Treatment, Outcomes
- Chronic Lymphocytic Leukemia Research
- Genetic Syndromes and Imprinting
- Ultrasonics and Acoustic Wave Propagation
Yonsei University
2021-2025
Abstract The railroad rail support trains and contributes to their operation. Internal surface defects occur on the due various combinations of causes including fatigue loading cyclic tension compression among others from deterioration along with temperature differences seasonal changes. Surface such as head check, shelling, squats start out in become internal poor maintenance, ultimately resulting failure. In order prevent failure, it is important that are identified through nondestructive...
Next-generation sequencing (NGS) facilitates comprehensive molecular analyses that help with diagnosing unsolved disorders. In addition to detecting single-nucleotide variations and small insertions/deletions, bioinformatics tools can identify copy number (CNVs) in NGS data, which improves the diagnostic yield. However, due possibility of false positives, subsequent confirmation tests are generally performed. Here, we introduce Copy-number Analysis by BAse-level NormAlization (CABANA), a...
Currently, FLT3 internal tandem duplication (ITD) is tested by fragment analysis. With next-generation sequencing (NGS), however, not only ITD but also other mutations can be detected, which provide more genetic information on disease.We retrospectively reviewed the results of two tests-fragment analysis and a custom-designed, hybridization capture-based, targeted NGS panel-performed simultaneously. We used Pindel algorithm to detect mutations.Among 277 bone marrow aspirate samples analysis,...
Accurate detection of cytogenetic abnormalities has become more important for improving risk-adapted treatment strategies in multiple myeloma (MM). However, precise testing by fluorescence situ hybridization (FISH) is challenged the dilution effect bone marrow specimens and poor growth plasma cells ex vivo. It been suggested that FISH should be performed combination with cell enrichment strategies. We examined newly diagnosed MM compared efficacy three different modalities FISH: direct (n =...
Abstract Next-generation sequencing (NGS) facilitates comprehensive molecular analyses, allowing accurate diagnosis of unsolved disorders. In addition to detecting single-nucleotide variations and small insertions/deletions, bioinformatics tools can identify copy number (CNVs) in NGS data, which improves the diagnostic yield. However, due possibility false positives, subsequent confirmation tests are generally performed. Here, we introduce Copy-number Analysis by BAse-level NormAlization...
Polymyositis (PM) and dermatomyositis (DM) are two distinct subgroups of idiopathic inflammatory myopathies. Dysferlinopathy, caused by a dysferlin gene mutation, usually presents in late adolescence with muscle weakness, degenerative changes often accompanied infiltrates, resulting misdiagnosis as polymyositis.To identify differential biological pathways hub genes related to polymyositis, dysferlinopathy using bioinformatics analysis for understanding the pathomechanisms providing guidance...
Abstract Accurate detection of cytogenetic abnormalities has become more important for improving risk-adapted treatment strategies in multiple myeloma (MM). However, precise testing by fluorescence situ hybridization (FISH) is challenged the dilution effect bone marrow specimens and poor growth plasma cells ex vivo . To address these issues, we compared performances three different enrichment modalities FISH: direct FISH, immunophenotyping interphase cytogenetics as a tool investigation...