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Relevance of next generation sequencing (NGS) data re-analysis in the diagnosis of monogenic diseases leading to organ failure
BackgroundIn 2018, our center started a program to offer genetic diagnosis to patients with kidney and liver monogenic rare conditions, potentially...
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RB1 screening of retinoblastoma patients in Sri Lanka using targeted next generation sequencing (NGS) and gene ratio analysis copy enumeration PCR (GRACE-PCR)
BackgroundRetinoblastoma (RB) a tumour affecting those under 5 years, has a prevalence of 1 in 20,000, with around twenty new diagnoses per year in...
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Clinical applications of metagenomics next-generation sequencing in infectious diseases
Infectious diseases are a great threat to human health. Rapid and accurate detection of pathogens is important in the diagnosis and treatment of...
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Utility of next generation sequencing in paediatric neurological disorders: experience from South Africa
Next generation sequencing (NGS)-based tests have become routine first-line investigative modalities in paediatric neurology clinics in many...
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Limitations in next-generation sequencing-based genotyping of breast cancer polygenic risk score loci
Considering polygenic risk scores (PRSs) in individual risk prediction is increasingly implemented in genetic testing for hereditary breast cancer...
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Utility of bronchoscopically obtained frozen cytology pellets for next-generation sequencing
BackgroundNext-generation sequencing (NGS) is essential for lung cancer treatment. It is important to collect sufficient tissue specimens, but...
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Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population
Next-generation sequencing (NGS) has been proven to be one of the most powerful diagnostic tools for rare Mendelian disorders. Several studies on the...
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Next-Generation Sequencing
The next-generation sequencing platforms can generate a large amount of high-throughput sequencing data in a short span of time. Reference-based...
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Quality assurance for next-generation sequencing diagnostics of rare neurological diseases in the European Reference Network
In the past decade, next-generation sequencing (NGS) has revolutionised genetic diagnostics for rare neurological disorders (RND). However, the lack...
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Comprehensive HLA Typing from a Current Allele Database Using Next-Generation Sequencing Data
HLA allele information is essential for a variety of medical applications, such as genomic studies of multifactorial diseases, including immune...
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Next-generation sequencing in the diagnosis of neurobrucellosis: a case series of eight consecutive patients
BackgroundNeurobrucellosis (NB) presents a challenge for rapid and specific diagnosis. Next-generation sequencing (NGS) of cerebrospinal fluid (CSF)...
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Recommendations for reporting tissue and circulating tumour (ct)DNA next-generation sequencing results in non-small cell lung cancer
Non-small cell lung cancer is a heterogeneous disease and molecular characterisation plays an important role in its clinical management....
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Diagnostic yield of targeted next-generation sequencing for pediatric hereditary hemolytic anemia
BackgroundHereditary hemolytic anemia (HHA) refers to a heterogeneous group of genetic disorders that share one common feature: destruction of...
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Unveiling the etiology of peritonsillar abscess using next generation sequencing
BackgroundPeritonsillar abscess (PTA) is a severe deep neck space infection with an insufficiently characterized bacterial etiology. We aimed to...
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Next-Generation Sequencing in Cancer Research
Recent technological advances in next-generation sequencing (NGS) methods have made significant achievements in the field of cancer genetics. These...
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Monitoring measurable residual disease in paediatric acute lymphoblastic leukaemia using immunoglobulin gene clonality based on next-generation sequencing
BackgroundAssessment of measurable residual disease (MRD) is an essential prognostic tool for B-lymphoblastic leukaemia (B-ALL). In this study, we...
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Development of a simplified and cost-effective sample preparation method for genotyping of human papillomavirus by next-generation sequencing
High-risk human papillomavirus (HPV) infection is the most common cause of cervical cancer, but low-risk HPV strains can sometimes also be involved....
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Development and validation of sensitive BCR::ABL1 fusion gene quantitation using next-generation sequencing
BackgroundBCR::ABL1 fusion has significant prognostic value and is screened for chronic myeloid leukemia (CML) disease monitoring as a part of...
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Next generation sequencing in neonatology: what does it mean for the next generation?
Rapid whole genome sequencing (WGS) and whole exome sequencing (WES), sometimes referred to as “next generation sequencing” (NGS) are now recommended...
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A PCR-independent approach for mtDNA enrichment and next-generation sequencing: comprehensive evaluation and clinical application
BackgroundSequencing the mitochondrial genome has been increasingly important for the investigation of primary mitochondrial diseases (PMD) and...
