EBV-Negative Monomorphic B-Cell Posttransplant Lymphoproliferative Disorder with Marked Morphologic Pleomorphism and Pathogenic Mutations in ASXL1, BCOR, CDKN2A, NF1, and TP53 by Agata M. Bogusz

“…Fluorescence in situ hybridization studies (FISH) were negative for cMYC, BCL2, and BCL6 rearrangements but showed deletion of TP53 and monosomy of chromosome 17. Next-generation sequencing studies (NGS) revealed numerous genetic alterations including 6 pathogenic mutations in ASXL1, BCOR, CDKN2A, NF1, and TP53(x2) genes and 30 variants of unknown significance (VOUS) in ABL1, ASXL1, ATM, BCOR, BCORL1, BRNIP3, CDH2, CDKN2A, DNMT3A, ETV6, EZH2, FBXW7, KIT, NF1, RUNX1, SETPB1, SF1, SMC1A, STAG2, TET2, TP53, and U2AF2.…”
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Lyophilization of ASFV vaccine candidate ASFV-G-ΔI177L offers long term stability by Nallely Espinoza, Edward Spinard, Ayushi Rai, Elizabeth Ramirez-Medina, Alyssa Valladares, Amanda Meyers, Manuel V. Borca, Douglas P. Gladue

“…In this report, we determined that ASFV-G-ΔI177L, when lyophilized under specific conditions, is stable for up to one year at 4 °C, with similar vaccine titers after storage. Next-generation sequencing analysis also determined that lyophilization and long-term storage under these conditions had no effect on the genome of ASFV as the genome remained genetically identical to the original non-lyophilized form.…”
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Comparative genetic diagnostic evaluation of pediatric neuromuscular diseases in a consanguineous population by Abdullah Al-Hedaithy, Fouad Alghamdi, Momen Almomen, Fawzia Amer, Shaikhah Al Dossari, Deeba Noreen Baig, Shahid Bashir

“…Genetic testing was performed using selected Next Generation Sequencing (NGS) gene panels and whole exome sequencing on the peripheral blood sample from the patients. …”
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Replication-IDentifier links epigenetic and metabolic pathways to the replication stress response by Sophie C. van der Horst, Leonie Kollenstart, Amandine Batté, Sander Keizer, Kees Vreeken, Praveen Pandey, Andrei Chabes, Haico van Attikum

“…During Repli-ID, the replicative polymerase epsilon (Pol ε) is tracked at a barcoded origin of replication by chromatin immunoprecipitation (ChIP) coupled to next-generation sequencing of the barcode in thousands of hydroxyurea-treated yeast mutants. …”
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NTRK-rearranged spindle cell tumor with SPECC1L-NTRK3 fusion in the thoracic spine: a case report by Mi Zhou, Huaiyuan Xu, Jianxiong Niu, Qibing Yang, Anqi Wang, Hao Wu, Xiangqin Wang, Meng Yang, Jinxin Hu, Qinglian Tang, Jin Wang

“…This case underscores the diagnostic and therapeutic importance of next-generation sequencing in identifying tumor-specific genetic alterations and selecting targeted therapies. …”
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From Cure to Crisis: Understanding the Evolution of Antibiotic-Resistant Bacteria in Human Microbiota by Hamed Tahmasebi, Neda Arjmand, Marzieh Monemi, Ali Babaeizad, Farnaz Alibabaei, Negar Alibabaei, Aisa Bahar, Valentyn Oksenych, Majid Eslami

“…Innovative strategies, including next-generation sequencing (NGS) technologies, offer promising avenues for mitigating resistance. …”
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Rhipicephalus simus ticks: new hosts for phleboviruses by Samuel Munalula Munjita, Benjamin Mubemba, John Tembo, Mathew Bates, Sody Munsaka, Ala Tabor

“…During a study in a riverine area in Lusaka Zambia, ten R. simus ticks were incidentally collected from the grass and bushes and subjected to metagenomic next generation sequencing (mNGS) in 2 pools of 5. Analysis detected a diverse microbial profile, including bacteria 82% (32/39), fungi 15.4% (6/39), and viruses 2.6% (1/39). …”
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Runaway Train: A Leaky Radiosensitive SCID with Skin Lesions and Multiple Lymphomas by Børre Fevang, Unn Merete Fagerli, Hanne Sorte, Harald Aarset, Håkon Hov, Marit Langmyr, Thomas Morten Keil, Ellen Bjørge, Pål Aukrust, Asbjørg Stray-Pedersen, Tobias Gedde-Dahl

“…The case underscores the importance of next-generation sequencing in the diagnosis of patients with suspected severe immunodeficiency.…”
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What Drives Embryo Development? Chromosomal Normality or Mitochondria? by A. Bayram, I. Elkhatib, A. Arnanz, A. Linan, F. Ruiz, B. Lawrenz, H. M. Fatemi

“…Preimplantation genetic screening (PGS) and mitochondrial DNA (mtDNA) copy number were done using next generation sequencing (NGS). The only normal embryo among the all-biopsied embryos had the highest “Mitoscore” value and was the only arrested embryo in both cases. …”
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Primary Signet Ring Cell/Histiocytoid Carcinoma of the Eyelid: Clinicopathologic Analysis with Evaluation of the E-Cadherin/β-Catenin Complex and Associated Genetic Alterations by Maria Del Valle Estopinal, Lavinia P. Middleton, Bita Esmaeli, Keyur P. Patel, Sara Nowroozizadeh, Michelle D. Williams

“…Immunohistochemical studies for the expression of E-cadherin, β-catenin, c-Myc, Cyclin D1, Src, and p53 were analyzed. Next generation sequencing for the detection of somatic mutations was performed on each tumor with matched normal tissue, examining 50 cancer-related genes. …”
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Identification of a Mutation in the Novel Compound Heterozygous CFTR in a Chinese Family with Cystic Fibrosis by Hongxia Shao, Jingna Hua, Qi Wu, Xiaoge Li, Ming Zhang, Herong Wang, Junping Wu, Long Xu, Yi Xie, Li Li, Huaiyong Chen

“…We performed whole-exome sequencing on the family and validated all potential variants by Sanger sequencing. Results. Next-generation sequencing showed a novel compound heterozygous CFTR mutation (c.400 A > G p.Arg134Gly and c.3484 C > T p.Arg1162∗) which resulted in CF in the family. …”
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TERT-TP53 mutations: a novel biomarker pair for hepatocellular carcinoma recurrence and prognosis by Jin Li, Ling Bai, Zhaodan Xin, Jiajia Song, Hao Chen, Xingbo Song, Juan Zhou

“…In this study, we investigated the clinical implications of TERTpm, TP53m, and their co-occurrence in 50 HCC tissue samples using the next-generation sequencing (NGS) technology. We identified TERTpm (C228T) and TP53m in 16 (32%) and 24 (48%) samples, respectively. …”
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16S rRNA metabarcoding applied to the microbiome of insect products (novel food): a comparative analysis of three reference databases by Gabriele Spatola, Alice Giusti, Laura Gasperetti, Roberta Nuvoloni, Alessandra Dalmasso, Francesco Chiesa, Andrea Armani

“… The 16S rRNA metabarcoding, based on Next-Generation Sequencing (NGS), is used to assess microbial biodiversity in various matrices, including food. …”
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2b-RAD genotyping for population genomic studies of Chagas disease vectors: Rhodnius ecuadoriensis in Ecuador. by Luis E Hernandez-Castro, Marta Paterno, Anita G Villacís, Björn Andersson, Jaime A Costales, Michele De Noia, Sofía Ocaña-Mayorga, Cesar A Yumiseva, Mario J Grijalva, Martin S Llewellyn

“…Genomic approaches and next generation sequencing technologies have become powerful tools for investigating population diversity and structure which is a key consideration for vector control. …”
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Establishment of performance parameters for the Qubit™ 1X dsDNA HS Assay for use in forensic genetics casework by Adele Lauren Kaleigh Naidoo, Donna-Lee Pamela Martin, Laura Jane Heathfield

“…Next generation sequencing is being more regularly used in forensic casework, particularly for post-mortem genetic analyses in sudden unexpected death cases. …”
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An Approach to the Investigation of Thrombocytosis: Differentiating between Essential Thrombocythemia and Secondary Thrombocytosis by Ala Almanaseer, Benjamin Chin-Yee, Jenny Ho, Alejandro Lazo-Langner, Laila Schenkel, Pratibha Bhai, Bekim Sadikovic, Ian H. Chin-Yee, Cyrus C. Hsia

“…A practical diagnostic approach to identify secondary thrombocytosis could reduce overinvestigation such as next generation sequencing (NGS) panel. Methods and Results. …”
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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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A De Novo Mutation in ACTC1 and a TTN Variant Linked to a Severe Sporadic Infant Dilated Cardiomyopathy Case by Jose G. Acuña-Ochoa, Norma A. Balderrábano-Saucedo, Ana C. Cepeda-Nieto, Maria Y. Alvarado-Cervantes, Vianca L. Ibarra-Garcia, Daniel Barr, Matthew J. Gage, Ryan Pfeiffer, Dan Hu, Hector Barajas-Martinez

“…A total of 132 genes (48 structure- and 84 electrical-related genes) were examined by next generation sequencing to identify potential causative mutations in comparison to control population. …”
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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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