High-Risk Genotypes Associated with Poor Response to Controlled Ovarian Stimulation in Indian Women by Anuradha Udumudi, K. Chaitra Lava, Vandana Hegde

“…Materials and Methods: A total of 312 females were included in the study comprising 212 women with infertility and 100 controls. Next-generation sequencing technology was employed to sequence multiple genes associated with response to COS. …”
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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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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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Recombinant AAV batch profiling by nanopore sequencing elucidates product-related DNA impurities and vector genome length distribution by Florian Dunker-Seidler, Kathrin Breunig, Magdalena Haubner, Florian Sonntag, Markus Hörer, Rebecca C. Feiner

“…Comprehensive analysis of encapsidated DNA by long-read next-generation sequencing is destined to guide platform optimization and provide crucial insights into safety of gene therapies. …”
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Pre-gestational diabetes in a young woman with a pathogenic INSR missense mutation, p.(Met1180Lys) by Emma L Prehn, Mairéad Crowley, David Fennell, Brendan T Kinsley, Kevin Colclough, Maria M Byrne

“…As her sister was also diagnosed with diabetes at 13-years-old, next-generation sequencing was performed for known maturity onset diabetes of the young (MODY) genes and a p.…”
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A ribodepletion and tagging protocol to multiplex samples for RNA-seq based virus detection: application to the cassava virome by Daniel H. Otron, Justin S. Pita, Murielle Hoareau, Fidèle Tiendrébéogo, Jean-Michel Lett, Pierre Lefeuvre

“…Nevertheless, the development of next generation sequencing (NGS) methods has revolutionized plant virus detection and identification. …”
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Genomic characterization and molecular predictive biomarkers for chemotherapy in patients with metastatic triple-negative breast cancer treated in a real-world setting by Erik Olsson, Henrik Lindman, Evangelos Digkas, Viktoria Thurfjell, Haidar Mir Ali, Ute Krüger, Anna-Karin Wennstig, Marie Sundqvist, Antonios Valachis

“…Patients and methods: Next-generation sequencing with FoundationOne® CDx was conducted primarily on primary tumor tissue from 112 consecutive patients with mTNBC. …”
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Diagnosis and treatment of thyroblastoma: a case report and review of literature by Xiting Chen, Xiting Chen, Lijuan Xiong, Lijuan Xiong, Hongling Liu, Haoqiang Wang, Donghai Cheng, Wei Wang, Wenyuan He, Bo Xie, Juan Zhou

“…This classification was based on the observation that the tumor presents with independent primitive multilineage elements and is frequently associated with DICER1 hotspot mutations.The objective of this study was to explore and investigate the clinicopathologic characteristics, molecular features and treatment strategies of patients with thyroblastoma, followed by a review of the previous relevant literature.MethodsThe clinical manifestations, pathological characteristics, molecular features and treatment strategies of the initial case of thyroblastoma pathologically confirmed in China were analyzed.ResultsThe tumor was revealed to have high invasive potential, rapid disease progression, and primitive multilineage elements of pathology, including immature thyroid epithelium, spindled mesenchymal proliferations, and neuroepithelial blastema. Next-generation sequencing (NGS) confirmed the presence of germline DICER1 heterozygous pathogenic mutation at p.G1784* in patient, accompanied by the somatic hotspot mutation at p.E1813D of the RNase IIIb domain. …”
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Korean patients with hereditary cancer: a prospective multicentre cohort study protocol exploring psychosocial and health outcomes by Boyoung Park, Sun-young Kong, Dongju Won, Jong Eun Park, Jun-Kyu Kim, Mi-Ae Jang, Jung-Sook Ha, Kyoung-Bo Kim

“…This study evaluates changes in participant quality of life (QoL), unmet needs and mental health over time based on their genetic variant status.Methods and analysis This prospective cohort study will recruit 1435 patients with suspected hereditary cancer who have undergone BRCA1/2 or next-generation sequencing (NGS) testing. The study began in July 2023 and will continue until December 2027. …”
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Detecting gene copy number alterations by Oncomine Comprehensive genomic profiling in a comparative study on FFPE tumor samples by Fabio Bozzi, Elena Conca, Marco Silvestri, Gianpaolo Dagrada, Alice Ardore, Donata Penso, Daniele Lorenzini, Chiara Costanza Volpi, Desirè Viola Trupia, Adele Busico, Iolanda Capone, Federica Perrone, Elena Tamborini, Andrea Vingiani, Luca Agnelli, Giancarlo Pruneri

“…The introduction of other procedures, such as Next-Generation Sequencing has dramatically improved CNAs discovery at genome-wide level. …”
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Circulating tumor DNA for surveillance in high-risk melanoma patients: a study protocol by Magnús P.B. Obinah, Sarah A. Al-Halafi, Karin Dreisig, Tim S. Poulsen, Christoffer Johansen, Thomas Litman, Stig E. Bojesen, Estrid Høgdall, Annette H. Chakera, Lisbet R. Hölmich

“…In case of recurrence, patient-specific mutations are identified through next-generation sequencing (NGS) of formalin and paraffin embedded tissue from diagnostic routine. …”
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Low & Anaplastic Grade Glioma Umbrella Study of MOlecular Guided TherapieS (LUMOS-2): study protocol for a phase 2, prospective, multicentre, open-label, multiarm, biomarker-direct... by Marshall Pitz, Eng-Siew Koh, Elizabeth H Barnes, Lucille Sebastian, Mandy L Ballinger, David M Thomas, Christopher O'Callaghan, John Simes, Hui K Gan, Sonia Yip, Hao-Wen Sim, Desma Spyridopoulos, Richard De Abreu Lourenco, Cynthia Hawkins, Kristen McParland, Benjamin Kong, Subotheni Thavaneswaran, Patrick J Wheeler

“…Investigational treatment will be assigned based on molecular profiling of contemporaneous tissue obtained at disease relapse using next-generation sequencing. LUMOS-2 will begin with three therapeutic treatment arms: paxalisib, cadonilimab and selinexor. …”
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A novel high-throughput screen identifies phenazine-1-carboxylic acid as an inhibitor of African swine fever virus replication in primary porcine alveolar macrophages by Jing Lan, Rui Luo, Di Liu, Changxing Qi, Xin Song, Zhanhao Lu, Ruojia Huang, Yuying Yang, Yuan Sun, Yonghui Zhang, Tao Wang, Hua-Ji Qiu

“…Furthermore, analysis of Gluc activities, fluorescence, and next-generation sequencing indicated that rASFV-Gluc/EGFP maintains good genetic stability after 20 consecutive passages in PAMs. …”
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STR profiling in a cohort of Saudi patients with acute leukemia by Husein A. Alhatim, PhD Student, Muhammad NH Abdullah, PhD, Suhaili A. Jamaludin, PhD, Armania B. Nurdin, PhD, Sayed A. Amer, PhD

“…Further study applying next generation sequencing technology is necessary to validate these findings and explore the clinical applications of forensically used STRs as diagnostic tools for leukemia.…”
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