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. …”
Get full text

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. …”
Get full text

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. …”
Get full text

Molecular and Clinical Overview of Type 1 Neurofibromatosis: Single Center Study and Mini Review on NF1-Associated Vasculopathy and Juvenile Myelomonocytic Leukemia by Şule Altıner, Alper Han Çebi

“…Methods: In this study, NF1 gene sequence analysis was performed using next-generation sequencing in 32 unrelated Turkish patients with a prediagnosis of NF1. …”
Get full text

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. …”
Get full text

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. …”
Get full text

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. …”
Get full text

A retrospective single-center pilot study of the genetic background of the transplanted kidney. by Anna Novotna, Klara Horackova, Jana Soukupova, Petra Zemankova, Petr Nehasil, Pavel Just, Ludek Voska, Petra Kleiblova, Silvie Rajnochova Bloudickova

“…<h4>Materials and methods</h4>This retrospective single-center pilot study aimed to identify a potential genetic predisposition to RCC of the transplanted kidney and outcome in KTR who underwent single kidney transplantation between January 2000 and December 2020 and manifested RCC of the transplanted kidney. Next-generation sequencing (NGS) based germline genetic analysis from peripheral blood-derived genomic DNA (gDNA) was performed in both the recipient and donor using a gene panel targeting 226 cancer predisposition genes.…”
Get full text

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. …”
Get full text

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. …”
Get full text

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. …”
Get full text

AI allows pre-screening of FGFR3 mutational status using routine histology slides of muscle-invasive bladder cancer by Pierre-Antoine Bannier, Charlie Saillard, Philipp Mann, Maxime Touzot, Charles Maussion, Christian Matek, Niklas Klümper, Johannes Breyer, Ralph Wirtz, Danijel Sikic, Bernd Schmitz-Dräger, Bernd Wullich, Arndt Hartmann, Sebastian Försch, Markus Eckstein

“…However, current testing assays (polymerase chain reaction or next-generation sequencing) necessitate high tissue quality, have long turnover time, and are expensive. …”
Get full text

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. …”
Get full text

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. …”
Get full text

YAP1::KMT2A fusion-positive sarcoma: An emerging soft tissue tumor entity with morphological features resembling a sclerosing epithelioid fibrosarcoma by Ayush Agarwal, Bharat Rekhi, Vineeta Goel, Jyoti Bajpai, Sameer Rastogi

“…By fluorescence in-situ hybridization, EWSR1 gene rearrangement was negative. Next-generation sequencing (NGS) revealed YAP1exon5::KMT2Aexon4 fusion. …”
Get full text

RBM10 promotes transformation-associated processes in small cell lung cancer and is directly regulated by RBM5. by Julie J Loiselle, Justin G Roy, Leslie C Sutherland

“…Using RNA immunoprecipitation followed by next generation sequencing (RIP-Seq) and Western blotting, we demonstrate that RBM5 post-transcriptionally regulated RBM10 expression via direct interaction with specific RBM10 splice variants. …”
Get full text

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. …”
Get full text

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. …”
Get full text

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. …”
Get full text

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. …”
Get full text