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Determination of ITS1 haplotypes of Fritillariae Cirrhosae Bulbus by amplicon sequencing
BackgroundFritillariae Cirrhosae Bulbus is an antitussive and expectorant Chinese medicinal material derived from the dried bulbs of six Fritillaria ...
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Concordance between culture, Molecular Culture and Illumina 16S rRNA gene amplicon sequencing of bone and ulcer bed biopsies in people with diabetic foot osteomyelitis
BackgroundIn clinical practice the diagnosis of diabetic foot osteomyelitis (DFO) relies on cultures of bone or ulcer bed (UB) biopsies, of which...
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The gut microbiota composition in patients with right- and left-sided colorectal cancer and after curative colectomy, as analyzed by 16S rRNA gene amplicon sequencing
BackgroundGut pathological microbial imbalance or dysbiosis is closely associated with colorectal cancer. Although there are observable differences...
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Developmental validation of the STRSeqTyper122 kit for massively parallel sequencing of forensic STRs
Massively parallel sequencing allows for integrated genoty** of different types of forensic markers, which reduces DNA consumption, simplifies...
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16S rRNA gene amplicon sequencing of gut microbiota in gestational diabetes mellitus and their correlation with disease risk factors
PurposeAlthough the gut microbiota (GM) are associated with various diseases, their role in gestational diabetes mellitus (GDM) remains...
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Improving analysis of the vaginal microbiota of women undergoing assisted reproduction using nanopore sequencing
PurposeSubclinical alterations of the vaginal microbiome have been described to be associated with female infertility and may serve as predictors for...
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Whole genome sequencing of HER2-positive metastatic extramammary Paget’s disease: a case report
BackgroundExtramammary Paget’s disease (EMPD) is a rare cancer that occurs within the epithelium of the skin, arising predominantly in areas with...
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Clinical Value of EGFR Copy Number Gain Determined by Amplicon-Based Targeted Next Generation Sequencing in Patients with EGFR-Mutated NSCLC
BackgroundThe clinical relevance of epidermal growth factor receptor ( EGFR ) copy number gain in patients with EGFR mutated advanced non-small cell...
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Targeted next-generation sequencing for detection of PIK3CA mutations in archival tissues from patients with Klippel–Trenaunay syndrome in an Asian population
BackgroundKlippel–Trenaunay syndrome (KTS) is a rare slow-flow combined vascular malformation with limb hypertrophy. KTS is thought to lie on the PIK3CA...
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Use of hemagglutinin and neuraminidase amplicon-based high-throughput sequencing with variant analysis to detect co-infection and resolve identical consensus sequences of seasonal influenza in a university setting
BackgroundLocal transmission of seasonal influenza viruses (IVs) can be difficult to resolve. Here, we study if coupling high-throughput sequencing...
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Identification of causative gene variants for patients with known monogenic diabetes using a targeted next-generation sequencing panel in a single-center study
AimsWe aimed to verify the usefulness of targeted next-generation sequencing (NGS) technology for diagnosing monogenic diabetes in a single center.
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Fertility-Sparing Surgery and Adjuvant Chemotherapy with Trastuzumab Result in Complete Remission in a Young Woman with Rare Primary Mucinous Ovarian Cancer due to ERBB2 Co-amplification with CDK12 and Chromosome 11q13.3 Amplicon: A Case Report and Literature Review
Primary mucinous ovarian carcinoma (PMOC) is a rare tumor, accounting for approximately 3% of all epithelial ovarian cancers (EOCs), with clinical...
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Targeted long-read sequencing for comprehensive detection of CYP21A2 mutations in patients with 21-hydroxylase deficiency
Background21-Hydroxylase deficiency (21-OHD) is caused by pathogenic CYP21A2 variations. CYP21A2 is arranged in tandem with its highly homologous...
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Challenges and recommendations to increasing the use of exome sequencing and whole genome sequencing for diagnosing rare diseases in Brazil: an expert perspective
Early diagnosis of genetic rare diseases is an unmet need in Brazil, where an estimated 10–13 million people live with these conditions. Increased...
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Secondary zoonotic dog-to-human transmission of SARS-CoV-2 suggested by timeline but refuted by viral genome sequencing
PurposeThe risk of secondary zoonotic transmission of SARS-CoV-2 from pet animals remains unclear. Here, we report on a 44 year old Caucasian male...
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Aneuploidy detection in pooled polar bodies using rapid nanopore sequencing
PurposeVarious screening techniques have been developed for preimplantation genetic testing for aneuploidy (PGT-A) to reduce implantation failure and...
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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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NeoSeq: a new method of genomic sequencing for newborn screening
ObjectiveTo explore the clinical application of NeoSeq in newborn screening.
MethodsBased on the results obtained from traditional newborn screening...
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Early diagnosis of congenital muscular pathologies using next-generation sequencing: experiences from a tertiary center in Morocco
BackgroundCongenital muscular dystrophies (CMD) and congenital myopathies (CM) are clinically and genetically heterogeneous groups of neuromuscular...
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Whole-exome sequencing revealed a likely pathogenic variant in NF1 causing neurofibromatosis type I and Arrhythmogenic Cardiomyopathy
BackgroundNeurofibromatosis type I (NF1) is a genetic disorder characterized by the tumor’s development in nerve tissue. Complications of NF1 can...
