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Next-Generation-Sequencing in der Augenheilkunde
New methods for basic research are finding their way into ophthalmology and expand the options for research, diagnostics and treatment. This article...
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The role of next-generation sequencing in hematologic malignancies
Next-generation sequencing (NGS) allows high-throughput detection of molecular changes in tumors. Over the past 15 years, NGS has rapidly evolved...
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Evaluation of next-generation sequencing versus next-generation flow cytometry for minimal-residual-disease detection in Chinese patients with multiple myeloma
PurposeTo evaluate the efficacy of next-generation sequencing (NGS) in minimal-residual-disease (MRD) monitoring in Chinese patients with multiple...
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Genomische Analyse durch Next Generation Sequencing beim Nierenzellkarzinom
BackgroundThe availability of next generation sequencing (NGS) at economical costs and timely processing has opened up new possibilities to...
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Targeted next-generation sequencing analysis in Italian patients with keratoconus
ObjectiveTo report variants in 26 candidate genes and describe the clinical features of Italian patients with keratoconus (KC).
Subjects/methods ...
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Next-Generation Sequencing in Unexplained Intellectual Disability
ObjectivesTo determine the diagnostic yield of next generation sequencing (NGS) in patients with moderate/severe/profound intellectual disability...
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Value of next-generation sequencing in inherited arrhythmia syndromes
BackgroundGenetic studies are clinically recommended in some cases of inherited arrhythmia syndromes. Next-generation sequencing (NGS) would be...
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Endobronchial Ultrasound Guided Transbronchial Needle Aspiration and Next Generation Sequencing Yields
PurposeThe use of endobronchial ultrasound (EBUS) is standard practice for lung cancer diagnosis and staging. Next generation sequencing (NGS) for...
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Integration of Next-Generation Sequencing in the Surgical Management of Colorectal Liver Metastasis
Hepatic resection remains the treatment of choice for colorectal liver metastases. The advancement of surgical technique and use of perioperative...
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Next‑generation sequencing‑guided personalized therapy in renal cell carcinoma
PurposeThe WHO’s classification of renal cell carcinoma (RCC) has transitioned from solely morphologic to an integrated molecular-defined...
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Diagnostic yield of next-generation sequencing in suspect primary immunodeficiencies diseases: a systematic review and meta-analysis
To determine the diagnostic yield of Next-generation sequencing (NGS) in suspect Primary Immunodeficiencies Diseases (PIDs). This systematic review...
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OneGene PGT: comprehensive preimplantation genetic testing method utilizing next-generation sequencing
PurposePreimplantation genetic testing for monogenic disorders (PGT-M) allows early diagnosis in embryos conceived in vitro. PGT-M helps to prevent...
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First application of next-generation sequencing in four families with Wilson disease in Morocco
BackgroundWilson disease is a rare autosomal recessive disorder characterized by toxic accumulation of copper in various organs, principally in the...
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Diagnosis of leptospira by metagenomics next-generation sequencing with extracorporeal membrane oxygenation support: a case report
BackgroundLeptospirosis is an infectious disease caused by pathogenic Leptospira spp., which could result in severe illnesses. Indirect contact with...
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Comparison of the optimal and suboptimal quantity of mitotype libraries using next-generation sequencing
Optimizing analysis parameters and sample input is crucial in forensic genetics methods to generate reliable results, and even more so when working...
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Diagnostic performance of metagenomic next-generation sequencing for Pneumocystis jirovecii pneumonia
ObjectivePneumocystis jirovecii pneumonia (PJP) can be a life-threatening opportunistic infection. We aimed to evaluate the diagnostic accuracy of...
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Next-generation sequencing and bioinformatics in rare movement disorders
The ability to sequence entire exomes and genomes has revolutionized molecular testing in rare movement disorders, and genomic sequencing is becoming...
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Next-generation sequencing based newborn screening and comparative analysis with MS/MS
BackgroundNewborn screening (NBS), such as tandem mass spectrometry (MS/MS), may yield false positive/negative results. Next-generation sequencing...
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Mutational landscape of risk variants in comorbid depression and obesity: a next-generation sequencing approach
Major depression (MD) and obesity are complex genetic disorders that are frequently comorbid. However, the study of both diseases concurrently...
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Beyond the marrow: insights from comprehensive next-generation sequencing of extramedullary multiple myeloma tumors
Extramedullary multiple myeloma (EMM) is an aggressive form of multiple myeloma (MM). This study represents the most comprehensive next-generation...
