NF1 with 47,XYY mosaicism diagnosed by mandibular neurofibromas by Erina Tonouchi, Kei-ichi Morita, Yosuke Harazono, Kyoko Hoshino, Tetsuya Yoda

“…Targeted next-generation sequencing of the patient’s blood sample revealed a novel frameshift mutation in NF1 (NM_000267.3:c.6832dupA:p.Thr2278Asnfs*8) that is considered a pathogenic variant.…”
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Pantoea eucrina: Catheter‐Related Bloodstream Infection in a Woman With Short Bowel Syndrome by Ida Saksenborg Kølle, Lars Vinter‐Jensen, Morten Eneberg Nielsen, Hans Linde Nielsen

“…Despite presenting with only minor clinical symptoms, blood cultures from both central and peripheral sites confirmed the presence of P. eucrina, identified by matrix‐assisted laser desorption/ionization time‐of‐flight mass spectrometry (MALDI‐TOF MS) and whole‐genome sequencing. The infection was successfully cleared following a 13‐day course of gentamicin lock therapy and intravenous piperacillin–tazobactam, after which the catheter was removed.…”
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Microscopic and Molecular Detection of Camel Piroplasmosis in Gadarif State, Sudan by Abdalla Mohamed Ibrahim, Ahmed A. H. Kadle, Hamisi Said Nyingilili

“…Further studies in the phylogenetic sequencing are to be continued for parasite speciation. …”
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Diagnosis of a Rare Rickettsia felis Infection Complicated with Unusual Pericardial Effusion and Cardiac Tamponade Using an mNGS Test by Tien-Lung Po, Chien-Hsien Huang, Chia-Hsun Lin, Huei-Fong Hung

“…A diagnosis of chronic fibrosing pericarditis was established based on pericardium tissue obtained through pericardiotomy, and a conclusive metagenomic next-generation sequencing test confirmed the presence of Rickettsia felis infection. …”
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Ventriculosubgaleal shunt placement for hydrocephalus in osteogenesis imperfecta with novel compound heterozygous CRTAP variants by Shintaro Nakamura, Kyosuke Ibi, Hiroyuki Tanaka, Hirokazu Takami, Keita Okada, Nao Takasugi, Motohiro Kato, Naoto Takahashi, Takanobu Inoue

“…Targeted next-generation sequencing revealed novel compound heterozygous CRTAP variants, i.e., NM_006371.5, c.241 G > T, p.…”
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Type 2 Inflammatory Responses in Autoimmune Demyelination of the Central Nervous System: Recent Advances by Massimo Costanza

“…In neuromyelitis optica, an autoimmune demyelinating disorder of the spinal cord and optic nerve, eosinophils extensively infiltrate lesions in the central nervous system (CNS) and promote tissue pathology in experimental models of this disease. Next-generation sequencing of CD4+ T cells isolated from a specific subtype of multiple sclerosis plaque has uncovered an unexpectedly Th2 profile of these cells. …”
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Application of DNA Array Technology for Diagnostic Microbiology by Stephanie A Booth, Michael A Drebot, Graham A Tipples, Lai King Ng

“…Applications include genotyping, expression analysis and sequencing (1-4). The aim of this review is to provide a brief summary of current microarray technology and highlight the many ways in which it is being developed for use in clinical microbiology laboratories.…”
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Predicting lung aging using scRNA-Seq data. by Qi Song, Alex Singh, John E McDonough, Taylor S Adams, Robin Vos, Ruben De Man, Greg Myers, Laurens J Ceulemans, Bart M Vanaudenaerde, Wim A Wuyts, Xiting Yan, Jonas Schupp, James S Hagood, Naftali Kaminski, Ziv Bar-Joseph

“…Age prediction based on single cell RNA-Sequencing data (scRNA-Seq) can provide information for patients' susceptibility to various diseases and conditions. …”
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RNA Degradation in Staphylococcus aureus: Diversity of Ribonucleases and Their Impact by Rémy A. Bonnin, Philippe Bouloc

“…The diversity and potential roles of each RNase and of Hfq and RppH are discussed in the context of recent studies, some of which are based on next-generation sequencing technology.…”
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Revolutionizing colorectal cancer detection: A breakthrough in microbiome data analysis. by Mwenge Mulenga, Arutchelvan Rajamanikam, Suresh Kumar, Saharuddin Bin Muhammad, Subha Bhassu, Chandramathi Samudid, Aznul Qalid Md Sabri, Manjeevan Seera, Christopher Ifeanyi Eke

“…The emergence of Next Generation Sequencing (NGS) technology has catalyzed a paradigm shift in clinical diagnostics and personalized medicine, enabling unprecedented access to high-throughput microbiome data. …”
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Acral Melanoma: A Review of Its Pathogenesis, Progression, and Management by Soo Hyun Kim, Hensin Tsao

“…Recent advances in genomic, transcriptomic, and epigenomic sequencing have revealed genetic alterations unique to acral melanoma, including novel driver genes, high copy number variations, and complex chromosomal rearrangements. …”
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Genetics of Cerebral Vasospasm by Travis R. Ladner, Scott L. Zuckerman, J Mocco

“…In our review, we summarize the most recent research involving key areas within the genetics and vasospasm discussion: (1) Prognostic role of genetics—risk stratification based on gene sequencing, biomarkers, and polymorphisms; (2) Signaling pathways—pinpointing key inflammatory molecules responsible for downstream cellular signaling and altering these mediators to provide therapeutic benefit; and (3) Gene therapy and gene delivery—using viral vectors or novel protein delivery methods to overexpress protective genes in the vasospasm cascade.…”
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De Novo Heterozygous Mutation in FGFR2 Causing Type II Pfeiffer Syndrome by Rafat Mosalli, Alfia Fatma, Mohammed A. Almatrafi, Mayada Mazroua, Bosco Paes

“…We present a male, term infant with type II PS that was diagnostically suspected antenatally based on three-dimensional ultrasonographic findings that were confirmed postnatally by craniofacial tomography and magnetic resonance imaging. A new generation sequencing panel identified a unique de novo FGFR2, c.335 A > G p. …”
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Brigatinib treatment in a patient with advanced NSCLC with XPO1-ALK fusion: a case report by Yang Zhang, Ke-jie Li, Can Wang, Chang-lin Zou, Meng Su

“…In this case report, we provide evidence of a novel ALK fusion, XPO1-ALK (intergenic), identified by next-generation DNA sequencing in a patient with advanced lung cancer. After 5 months of brigatinib targeted therapy, the patient clearly experienced tumor disintegration, and this treatment resulted in partial remission. …”
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Measuring. Monitoring. Management. Control by M.V. Sprindzuk, V.I. Bernik, A.P. Konchits

“…As a result, the article presents a brief review of the literature on the topic of modern computational genomics, bioinformatics, mathematical biology, medical cybernetics, big data for medicine and biology, nucleic acid sequencing technologies, experience in developing pipelines for the analysis of genomic data, the new classification of software and concepts for interpreting data in this complex interdisciplinary multi-component subject area.…”

Schinzel-Giedion Syndrome with Congenital Megacalycosis in a Turkish Patient: Report of SETBP1 Mutation and Literature Review of the Clinical Features by Ozgul Bulut, Zeynep Ince, Umut Altunoglu, Sukran Yildirim, Asuman Coban

“…Recently, using exome sequencing, de novo heterozygous mutations in the SETBP1 gene have been identified in patients with SGS. …”
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Perinatal Cerebellar Injury in Human and Animal Models by Valerie Biran, Catherine Verney, Donna M. Ferriero

“…Survivors of preterm birth demonstrate a constellation of long-term neurodevelopmental deficits, many of which are potentially referable to cerebellar injury, including impaired motor functions such as fine motor incoordination, impaired motor sequencing and also cognitive, behavioral dysfunction among older patients. …”
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Introduction to International Ethical Standards Related to Genetics and Genomics by Seon-Hee Yim, Yeun-Jun Chung

“…After that, the morality of one recent event related to whole-genome sequencing and person-identifiable genetic data will be explored based on those international standards.…”
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A Review of Three Different Studies on Hidden Markov Models for Epigenetic Problems: A Computational Perspective by Kyung-Eun Lee, Hyun-Seok Park

“…Recent technical advances, such as chromatin immunoprecipitation combined with DNA microarrays (ChIp-chip) and chromatin immunoprecipitation-sequencing (ChIP-seq), have generated large quantities of high-throughput data. …”
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An Advanced Understanding of Uterine Microbial Ecology Associated with Metritis in Dairy Cows by Soo Jin Jeon, Klibs N. Galvão

“…Recent studies using high-throughput sequencing observed very low relative abundance of Escherichia coli, Trueperella pyogenes, and Prevotella melaninogenica in cows with metritis. …”
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