An Extremely Rare SRD5A2 Gene c.485A>C Mutation in a Compound Heterozygous Newborn with Disorders of Sex Development First Identified in Vietnam by Phan Tuong Quynh Le, Thanh Nha Uyen Le, Thi Thanh Binh Nguyen, Minh Thao Nguyen, Thi Minh Thi Ha

“…This compound heterozygous mutation was first detected by next-generation sequencing. By Sanger sequencing, we confirmed that the c.485A>C mutation was maternal inherited, whereas the c.680G>A mutation was paternal inherited. …”
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Case report: The value of early application of mNGS technology in the diagnosis and treatment of severe Legionnaires’ disease: reports of two cases with different outcomes by Jianqing Fang, Zhe Wang, Yu Shen, Xuenong Wu, Hao Fang, Xiaokui Sun, Ting Yu, Qingqing Zhang

“…Increasing evidence shows that metagenomic next-generation sequencing (mNGS) has excellent potential for the early identification of pathogens. …”
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Effect of Next-Generation Exome Sequencing Depth for Discovery of Diagnostic Variants by Kyung Kim, Moon-Woo Seong, Won-Hyong Chung, Sung Sup Park, Sangseob Leem, Won Park, Jihyun Kim, KiYoung Lee, Rae Woong Park, Namshin Kim

“…Sequencing depth, which is directly related to the cost and time required for the generation, processing, and maintenance of next-generation sequencing data, is an important factor in the practical utilization of such data in clinical fields. …”
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GBS-DP: a bioinformatics pipeline for processing data coming from genotyping by sequencing by A. Y. Pronozin, E. A. Salina, D. A. Afonnikov

“…The development of next-generation sequencing technologies has provided new opportunities for genotyping various organisms, including plants. …”
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Current views on etiology, diagnosis, epidemiology and gene therapy of maturity onset diabetes in the young by Lilya U. Dzhemileva, Elena N. Zakharova, Anna O. Goncharenko, Maria V. Vorontsova, S. A. Rumyantsev, Natalia G. Mokrysheva, Marina Y. Loguinova, Vladimir P. Chekhonin

“…The remaining MODY subtypes, which are less prevalent, have been identified by next generation sequencing (NGS) in the last decade. Mutations in the GCK gene result in asymptomatic, stable fasting hyperglycemia, which does not require specific treatment. …”
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PRPF3-Associated Autosomal Dominant Retinitis Pigmentosa and CYP4V2-Associated Bietti’s Crystalline Corneoretinal Dystrophy Coexist in a Multigenerational Chinese Family by Xiaohong Meng, Qiyou Li, Hong Guo, Haiwei Xu, Shiying Li, Zhengqin Yin

“…Mutation screening of CYP4V2 was performed by Sanger sequencing. Next-generation sequencing (NGS) was performed to capture and sequence all exons of 47 known retinal dystrophy-associated genes in two affected family members who had no mutations in CYP4V2. …”
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TB drug susceptibility testing in high fluoroquinolone resistance settings by F. Saluzzo, F. Masood, V. Batignani, F. Di Marco, U. Majeed, A. Ghazal, D.M. Cirillo, S. Tahseen

“…Xpert® MTB/RIF Ultra, MTB/XDR, Genotype® MTBDRplus, Genotype® MTBDRsl, culture, and phenotypic drug susceptibility testing (pDST) for relevant drugs (including bedaquiline and levofloxacin) were performed. Next-generation sequencing (NGS) resolved discordances between MTB/XDR and pDST results. …”
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When a sore throat turns into deadly multiple serous cavity effusions: the role of Prevotella oris in rapidly progressing infection—a case report by Fangqi Zhang, Juan-Li Wang, Jian Zhu, Shaokui Si, Hao Guo, Xiang Yue, Wei Wen

“…After multiple cultures of the patient’s sputum yielded no identifiable pathogenic bacteria, the metagenomic next-generation sequencing (mNGS) revealed Prevotella oris as the predominant pathogen present in both the patient’s peripheral blood and the pericardial drainage fluid. …”
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Host 3' flap endonuclease Mus81 plays a critical role in trimming the terminal redundancy of hepatitis B virus relaxed circular DNA during covalently closed circular DNA formation. by Hu Zhang, Quanxin Long, Yuanjie Liu, Alexander L Marchetti, Cheng-Der Liu, Ning Sun, Haitao Guo

“…The production of HBV rcDNA and cccDNA in HepDES-C1822G cells was comparable to wt levels. Next-generation sequencing (NGS) analysis revealed that the positive (+) strand DNA of rcDNA and both strands of cccDNA predominantly carried the wt nt1822 residue, indicating that the 5' TR of (-) strand DNA serves as the template during rcDNA replication, forming a duplex with the (+) strand DNA, while the 3' TR forms a flap-like structure, which is subsequently removed during cccDNA formation. …”
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Microbial Community, Fatty Acid Composition, and Health Potential of Horse Oil Fermented with Barley Nuruk by Jeong-Ha Lee, Sung-Eun Bae, Ho-Min Kang, Yu-Jin Ha, Chang-Gu Hyun

“…Molecular docking demonstrated that the amide structures play a key role in α-glucosidase inhibition through essential hydrogen bonding interactions. Next-generation sequencing (NGS) analysis showed a notable reduction in pathogenic bacteria, such as <i>Salmonella enterica</i>, and a dominance of <i>Lactobacillus acidophilus</i> (95.2%) by day 10. …”
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Asymptomatic lung abscess of aspergillus in a female without previous lung diseases or immunocompromise: a case report by Hanxue Xiang, Ling Zhang, Liu Yang, Miaotian Cai, Yingmin Ma, Yulin Zhang

“…Then Aspergillus terreus was detected by both fluid culture and metagenomics next-generation sequencing. Interestingly, this patient had no history of tuberculosis or chronic pulmonary diseases. …”
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Proteogenomic Analysis Reveals Proteins Involved in the First Step of Adipogenesis in Human Adipose-Derived Stem Cells by Bernardo Bonilauri, Amanda C. Camillo-Andrade, Marlon D. M. Santos, Juliana de S. da G. Fischer, Paulo C. Carvalho, Bruno Dallagiovanna

“…We also used our previous next-generation sequencing data (RNA-seq) of the total and polysomal mRNA fractions of hASC to study posttranscriptional regulation during the initial steps of adipogenesis. …”
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Microbiome Associated with Slovak Raw Goat Milk, Trace Minerals, and Vitamin E Content by Andrea Lauková, Lenka Micenková, Ľubomíra Grešáková, Michaela Maďarová, Monika Pogány Simonová, Valentína Focková, Jana Ščerbová

“…However, there is a lack of information regarding the microbial consortium in Slovak raw goat milk analyzed by next-generation sequencing and trace elements and vitamin E as well. …”
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Diagnosis of Fanconi Anemia: Mutation Analysis by Multiplex Ligation-Dependent Probe Amplification and PCR-Based Sanger Sequencing by Johan J. P. Gille, Karijn Floor, Lianne Kerkhoven, Najim Ameziane, Hans Joenje, Johan P. de Winter

“…Although simultaneous testing of all FA genes by next generation sequencing will be possible in the near future, this technique will not be available immediately for all laboratories. …”
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Diversity and Potential Cross-Species Transmission of Rotavirus A in Wild Animals in Yunnan, China by Xiang Le, Yinzhu Tao, Binghui Wang, Yutong Hou, Yuting Ning, Junjie Hou, Ruimei Wang, Qian Li, Xueshan Xia

“…A total of 24 samples, originating from wild boars, rodents, bats, and birds tested positive for RVA. Next generation sequencing and phylogenetic analyses revealed a high degree of genetic diversity and reassortment, particularly for VP4 and VP7. …”
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Case Report: The first Korean familial case of BCAP31-related deafness, dystonia, and cerebral hypomyelination by Yoong-A Suh, Jisun Hwang, Go Hun Seo, Rin Khang, Jang Hoon Lee, Moon Sung Park, Young Bae Sohn

“…Early genetic evaluation via next-generation sequencing is crucial for timely diagnosis and intervention, particularly in VLBW infants with genetic disorders. …”
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RNF43 Mutations in IPMN Cases: A Potential Prognostic Factor by Xiao Yan Chang, Yan Wu, Ying Jiang, Peng Yan Wang, Jie Chen

“…The mutation rates of codons 12, 13, and 61 in KRAS and codon 201 in GNAS were detected by Sanger sequencing. Next-generation sequencing was performed on RNF43, and the results were further verified by Sanger sequencing. …”
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Characterization of Microbiota in Endometrial Fluid and Vaginal Secretions in Infertile Women with Repeated Implantation Failure by Kotaro Kitaya, Yoko Nagai, Wataru Arai, Yoshiyuki Sakuraba, Tomomoto Ishikawa

“…Extracted genomic DNA was pyrosequenced for the V4 region of 16S ribosomal RNA using a next-generation sequencer. The EF microbiota had higher α-diversity and broader bacterial species than the VS microbiota both in the RIF and control groups. …”
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Antimicrobial Susceptibility Profiles of Commensal <i>Staphylococcus</i> spp. Isolates from Chickens in Hungarian Poultry Farms Between 2022 and 2023 by Ábel Szabó, Ákos Jerzsele, László Kovács, Ádám Kerek

“…To uncover the underlying causes of multidrug resistance, next-generation sequencing can be employed to elucidate the genetic basis of phenotypic resistance.…”
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Leveraging mRNA technology for antigen based immuno-oncology therapies by Wei Zheng, Michele Ceccarelli, Charalampos S Floudas, Siranush Sarkizova

“…The identification and prioritization of patient-specific tumor neoantigens are based on advanced computational algorithms taking advantage of the profiling with next-generation sequencing considering factors involved in human leukocyte antigen (HLA)-peptide-T-cell receptor (TCR) complex formation, including peptide presentation, HLA-peptide affinity, and TCR recognition. …”
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