Molecular Profiling: A Case of ZBTB16-RARA Acute Promyelocytic Leukemia by Stephen E. Langabeer, Lisa Preston, Johanna Kelly, Matt Goodyer, Ezzat Elhassadi, Amjad Hayat

“…Additional mutations potentially cooperating with the translocation fusion product in leukemogenesis have been hitherto unreported in ZBTB16-RARA APL and were sought by application of a next-generation sequencing approach to detect those recurrently found in myeloid malignancies. …”
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Case report of twins with Bardet-Biedl syndrome exhibiting a rare mutation in the TTC8 gene by Agnieszka Murawska, Kamil Możdżeń, Grzegorz Horosin, Edward Pędziwiatr, Joanna Makowska, Jakub Pośpiech, Konrad Kaleta, Dorota Drożdż, Katarzyna Zachwieja

“…Abnormal variants in this gene were found in the case of our patients – twin sisters diagnosed with BBS. Next-generation sequencing revealed variants in the TTC8 gene: c.-104G>A [NM_001288783, rs119103286] and c.635T>C [NM_144596], which are associated with BBS type 8. …”
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Quantifying hope: an EU perspective of rare disease therapeutic space and market dynamics by Emmanuelle Cacoub, Emmanuelle Cacoub, Nathalie Barreto Lefebvre, Dimitrije Milunov, Manish Sarkar, Soham Saha

“…The UN emphasizes improved access to primary care (diagnostic and potentially therapeutic) for these patients and their families. Next-generation sequencing (NGS) offers hope for earlier and more accurate diagnoses, potentially leading to preventative measures and targeted therapies. …”
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Beyond Immunuhistochemistry: Molecular Insights Into Round Cell Soft Tissue Tumors by Prashanth Kumar Madoori, Sujatha Tejavat

“…The advent of techniques such as fluorescence in situ hybridization (FISH), reverse transcriptase-polymerase chain reaction (RT-PCR), and next-generation sequencing (NGS) has enabled detection of genetic fusions and aberrations critical for tumor identification and targeted therapies. …”
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Genome-Based Virus Taxonomy with the ICTV Database Extension by Shinduck Kang, Young-Chang Kim

“…Due to the development of next-generation sequencing and the accompanying bioinformatics analysis pipelines, a reconstruction of the classification system has been proposed. …”
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Comprehensive genome-scale CRISPR knockout screening of CHO cells by Sung Wook Shin, Su Hyun Kim, Aghiles Gasselin, Gyun Min Lee, Jae Seong Lee

“…Collectively, our next-generation sequencing datasets, derived from a robust and reliable CRISPR screening method, provide valuable insights into CHO genomic functions, advancing the development of next-generation CHO factories.…”
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Case report: Electrical impedance tomography-guided ventilator weaning in an obese patient with severe pneumonia by Yuxia Liu, Rui Liu, Bin Li, Libi Cai, Jieqi Hou, Wei Zhao

“…Combined with abnormal computed tomography imaging, the discovery of a viral infection in the bronchoalveolar lavage fluid, and next-generation sequencing results, he was diagnosed with severe pneumonia. …”
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Identification and characterization of 17 novel polynucleotide microsatellite markers in Ocypode stimpsoni (Decapoda: Ocypodidae) by Ha Yeun Song, Young Ji Choi, Dea-Sung Lee, Hyun Ki Choi, Kyung Min Choi, Kang-Yeol Yu, Namki Cho, Seungki Lee

“…In this study, we successfully identified 17 microsatellite markers for O. stimpsoni through next-generation sequencing. Results Out of the 63 loci examined, 26 were effectively amplified in a sample of 100 individuals. …”
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Mapping transcriptomic profiles of seminal vesiculitis and experimental verification by Chenkui Miao, Shaobo Zhang, Jiajin Wu, Meiling Bao, Zengjun Wang, Bianjiang Liu

“…Methods: In this study, we utilized a next-generation sequencing technology to demonstrate transcriptomic landscapes of clinical specimens from seminal vesiculitis patients. …”
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Utilization of nanomaterials functionalized bio-field-effect transistors for detection of cancer biomarkers by Keerthana Madhivanan, Raji Atchudan, Sandeep Arya, Ashok K. Sundramoorthy

“…FETs based biosensors were highly sensitive and selective compared to the other traditional sensing devices such as amplification-refractory mutations, Western blot, electrochemical, digital polymerase chain reaction and next generation sequencing methods. Moreover, FETs-based biosensors offer the early diagnosis of the disease with high specificity and high sensitivity at a relatively low cost.…”
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Review of Biological Network Data and Its Applications by Donghyeon Yu, MinSoo Kim, Guanghua Xiao, Tae Hyun Hwang

“…Various types of large-scale biological datasets have been collected and analyzed with high-throughput technologies, including DNA microarray, next-generation sequencing, and the two-hybrid screening system, for this purpose. …”
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COVID-19 Whole-Genome Resequencing with Redundant Tiling PCR and Subtract-Based Amplicon Normalization Successfully Characterized SARS-CoV-2 Variants in Clinical Specimens by Tatsuki Sugi, Mizanur Rahman, Rummana Rahim, Abu Hasan, Naoko Kawai, Kyoko Hayashida, Junya Yamagishi

“…We further demonstrated that subtracting overrepresented amplicons from the multiplex PCR products reduced the bias of the next-generation sequencing (NGS) library, resulting in decreasing required sequencing reads per sample. …”
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Navigating the Evolving Treatment Paradigm for _EGFR_-Mutant NSCLC by Sebastian Kraus

“…Given the many treatment options available for NSCLC and the increasing understanding of the interactions between mutations and common therapies in the palliative stages, comprehensive next-generation sequencing (NGS) is recommended at the initial stage, particularly for adenocarcinomas. …”
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Emerging Paradigms in Genomics-Based Crop Improvement by Abhishek Bohra

“…Next generation sequencing platforms and high-throughput genotyping assays have remarkably expedited the pace of development of genomic tools and resources for several crops. …”
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Reflections on the US FDA's Warning on Direct-to-Consumer Genetic Testing by Seon-Hee Yim, Yeun-Jun Chung

“…This action was also significant, since it reflected the FDA's attitude towards medical application of next-generation sequencing techniques. In this review, we followed up on the FDA-23andMe incident and evaluated the problems and prospects for DTC genetic testing.…”
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The Research Progress of Single-Molecule Sequencing and Its Significance in Nucleic Acid Metrology by Yajun Wang, Jingjing Liu, Zhendong Wang, Mei Zhang, Yongzhuo Zhang

“…Compared to traditional Sanger sequencing and next-generation sequencing technologies, it offers significant advantages, including ultra-long read lengths, rapid sequencing, and the absence of amplification steps, making it widely applicable across various fields. …”
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T-cell receptor beta variable gene polymorphism predicts immune-related adverse events during checkpoint blockade immunotherapy by Linghua Wang, Siqing Fu, Aung Naing, Funda Meric-Bernstam, Carl Morrison, Joud Hajjar, Mingxuan Xu, Anas Alshawa, Bettzy Stephen, Ying Yuan, Jordi Rodon Ahnert, Abdulrazzak Zarifa, Shrutii Sarda, Timothy Looney, Sapna P Patel, Geoffrey M Lowman, Dzifa Yawa Duose, Jeffrey M Conroy, Evan Kwiatkowski

“…However, the repetitive nature of the TCRB locus and incomplete genome assembly has hampered the evaluation of TRBV polymorphisms in the past.Patients and methods We used a novel method for long-amplicon next generation sequencing of rearranged TCRB chains from peripheral blood total RNA to evaluate the link between TRBV polymorphisms and irAEs in patients treated with immunotherapy for cancer. …”
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Expanding the Phenotype of Congenital Glucocorticoid Deficiency: An Iranian Patient with Cholestasis due to Pathogenic Variants in the MC2R Gene by Shohreh Maleknejad, Setila Dalili, Ameneh Sharifi, Afagh Hassanzadeh Rad, Reza Bayat, Bahareh Rabbani, Nejat Mahdieh

“…Clinical evaluations and lab assessments were conducted on a six-month-old male infant. Next-generation sequencing identified the genetic causes of the disease, and Sanger sequencing confirmed the variants through segregation analysis. …”
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Case Report - Severe hypospadias in 46, XY karyotype patients: is third level genetic testing always mandatory? by Giorgia Romano, Giovanni Rollo, Lorna Spagnol, Mafalda Mucciolo, Ottavio Adorisio, Massimiliano Silveri

“…While genetic investigation isn't routine for all severe hypospadias cases, Next Generation Sequencing (NGS) technologies have influenced the rate of correct diagnoses, reduced diagnostic delay, and helped to determine the need for focused medical care and timely treatment. …”
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Finding Genetic Risk Factors of Gestational Diabetes by Soo Heon Kwak, Hak C. Jang, Kyong Soo Park

“…Current investigations using next-generation sequencing will improve our insight into the pathophysiology of GDM. …”
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