Genetic Etiology Study of Ten Chinese Families with Nonsyndromic Hearing Loss by Songqun Hu, Feifei Sun, Jie Zhang, Yan Tang, Jinhong Qiu, Zhixia Wang, Luping Zhang

“…In this report, we aimed to disclose the genetic causes of the subjects from the ten Chinese deaf families who did not have pathogenic common genes/mutation. Next-generation sequencing (NGS) of 142 known deafness genes was performed in the probands of ten families followed by cosegregation analysis of all family members. …”
Get full text

Central Role of Gimap5 in Maintaining Peripheral Tolerance and T Cell Homeostasis in the Gut by Mehari Endale, H. Ibrahim Aksoylar, Kasper Hoebe

“…Specifically, genome-wide (GWAS) and also next-generation sequencing (NGS)—including whole exome or genome sequencing—have uncovered a large number of susceptibility loci that predispose to autoimmune diseases and/or the two phenotypes of IBD. …”
Get full text

Using DNA metabarcoding and direct behavioural observations to identify the diet of proboscis monkeys (Nasalis larvatus) in the Kinabatangan Floodplain, Sabah. by Valentine Thiry, Arthur F Boom, Danica J Stark, Olivier J Hardy, Roseline C Beudels-Jamar, Regine Vercauteren Drubbel, Sylvia Alsisto, Martine Vercauteren, Benoit Goossens

“…Secondly, we used the DNA metabarcoding approach, based on next-generation sequencing (NGS, MiSeq Illumina) of faecal samples (n = 155), using the short chloroplast sequence, the trnL (UAA) P6 loop. …”
Get full text

NGS Analysis of Clonality and Minimal Residual Disease in a Patient with Concurrent Richter’s Transformation and CLL/SLL by Shrihari S. Kadkol, Joshua Bland, Ashley Kavanaugh, Hongyu Ni, Vijeyaluxmi Nehru, David Peace

“…More recently, next-generation sequencing (NGS) has been used to detect clonality in B-cell lymphomas because of the exponential amount of information that is obtained beyond just detecting a clonal population. …”
Get full text

Characteristics of lower respiratory microbiota in children’s refractory Mycoplasma pneumoniae pneumonia pre- and post-COVID-19 era by Zhimin Xi, Jinglong Chen, Libo Wang, Aizhen Lu

“…The characteristics of the clinical findings were examined, and the LRT microbiota was analyzed by metagenomic next generation sequencing.ResultsThe ratio of consolidate, atelectasis, lung necrosis, and erythema multiforme in Y2023 group was significantly higher than that in Y2019 (P<0.05). …”
Get full text

Coexistence of Asymptomatic Allergic Bronchopulmonary Aspergillosis and Active Pulmonary Tuberculosis: Case Report by Jia Q, Wang L, Tong X, Sun J, Fan H

“…Active tuberculosis was initially confirmed using specialized detection methods, including metagenomic next-generation sequencing and Xpert MTB/RIF analysis of bronchoalveolar lavage fluid. …”
Get full text

No evidence for active viral infection in unicentric and idiopathic multicentric Castleman disease by Viral-Track analysis by Ira Miller, Melanie D. Mumau, Saishravan Shyamsundar, Mateo Sarmiento Bustamante, Pedro Horna, Michael V. Gonzalez, David C. Fajgenbaum

“…To investigate potential active infections in UCD and iMCD, we implemented Viral-Track, a computational method that identifies viral mRNA sequences from next-generation sequencing data. We applied Viral-Track to short sequencing reads from a cohort of UCD (n = 22), iMCD (n = 19), and controls (n = 86). …”
Get full text

Alpinia oxyphylla Miq. Extract Prevents Diabetes in Mice by Modulating Gut Microbiota by Yiqiang Xie, Man Xiao, Yali Ni, Shangfei Jiang, Guizhu Feng, Shenggang Sang, Guankui Du

“…Comparisons of fecal bacterial communities were performed between db-/db- mice and normal mice (DB/DB) and between the db-/db mice treated and untreated with AOE using next-generation sequencing technology. Our results showed that the db-/db-AOE group had improved glycemic control and renal function compared with the db-/db-H2O group. …”
Get full text

Analysis of unmapped regions associated with long deletions in Korean whole genome sequences based on short read data by Yuna Lee, Kiejung Park, Insong Koh

“…However, because long read data have a critical disadvantage due to their relatively high cost, many next generation sequencing data are produced mainly by short read sequencing machines. …”
Get full text

Groundbreaking Technologies and the Biocontrol of Fungal Vascular Plant Pathogens by Carmen Gómez-Lama Cabanás, Jesús Mercado-Blanco

“…Powerful tools such as next-generation sequencing, meta-omics, and microbiome engineering allow for the targeted manipulation of microbial communities to enhance pathogen suppression. …”
Get full text

Qualitative Analysis of Microbial Dynamics during Anaerobic Digestion of Microalgal Biomass in a UASB Reactor by Anna Doloman, Yousef Soboh, Andrew J. Walters, Ronald C. Sims, Charles D. Miller

“…Samples of the sludge were collected throughout AD and extracted DNA was subjected to next-generation sequencing using methanogen mcrA gene specific and universal bacterial primers. …”
Get full text

Comparison of the MGISEQ-2000 and Illumina HiSeq 4000 sequencing platforms for RNA sequencing by Sol A Jeon, Jong Lyul Park, Jong-Hwan Kim, Jeong Hwan Kim, Yong Sung Kim, Jin Cheon Kim, Seon-Young Kim

“…Currently, Illumina sequencers are the globally leading sequencing platform in the next-generation sequencing market. Recently, MGI Tech launched a series of new sequencers, including the MGISEQ-2000, which promise to deliver high-quality sequencing data faster and at lower prices than Illumina’s sequencers. …”
Get full text

MicroRNAs in Autoimmune Sjögren’s Syndrome by Seunghee Cha, Mahmoud Mona, Kyung Eun Lee, Dong Hee Kim, Kyudong Han

“…Various techniques for miRNA analysis with different stringencies have been applied, with the most recent one being next-generation sequencing. This review compiles and highlights differentially-expressed miRNAs in various samples collected from SjS patients and their potential implications in the pathogenesis of SjS. …”
Get full text

Tracking the genetic diversity of SARS-CoV-2 variants in Nicaragua throughout the COVID-19 pandemic by Gerald Vásquez Alemán, Cristhiam Cerpas, Jose G. Juarez, Hanny Moreira, Sonia Arguello, Josefina Coloma, Eva Harris, Aubree Gordon, Shannon N. Bennett, Ángel Balmaseda

“…This study characterizes the genomic diversity of SARS-CoV-2 in Nicaragua from March 2020 through December 2022, utilizing 1064 genomes obtained via next-generation sequencing. These sequences were selected nationwide and analyzed for variant classification, lineage predominance, and phylogenetic diversity. …”
Get full text

KRAS Mutation in Serous Borderline Tumor of the Testis: Report of a Case and Review of the Literature by Sarah Bouri, Jean-Christophe Noël, Xavier Catteau, Walid Al Hajj Obeid, Ilyas Svistakov, Thierry Roumeguère, Nicky D’Haene, Sandrine Rorive

“…Mutation testing using next-generation sequencing showed a Q61K KRAS gene mutation. …”
Get full text

COEX-Seq: Convert a Variety of Measurements of Gene Expression in RNA-Seq by Sang Cheol Kim, Donghyeon Yu, Seong Beom Cho

“…Next generation sequencing (NGS), a high-throughput DNA sequencing technology, is widely used for molecular biological studies. …”
Get full text

Genomic landscape and comparative analysis of tissue and liquid-based NGS in Taiwanese anaplastic thyroid carcinoma by Chun-Nan Yeh, Shu-Fu Lin, Chia-Ling Wu, Miaw-Jene Liou, I-Wen Chen, Chiao-Ping Chen, Ching-Fu Chang, Qi‑An Wang, Chiao-En Wu

“…Abstract Anaplastic thyroid carcinoma (ATC) is an aggressive cancer that requirements rapid diagnosis and multimodal treatment. Next-generation sequencing (NGS) aids in personalized therapies and improved trial enrollment. …”
Get full text

Sudden Vision Loss Secondary to Optic Nerve Infiltration as a Presenting Symptom of Metastatic Lung Adenocarcinoma by M. M. Shamim, M. Whaley, H. Rana, S. K. Jeffus, S. Bhatti, A. B. Sallam

“…He was found to have exon 19 deletion on next-generation sequencing. We treated him with local radiation therapy to the left eye and systemic osimertinib (EGFR-TKI). …”
Get full text

De Novo Transcriptome Sequencing of Olea europaea L. to Identify Genes Involved in the Development of the Pollen Tube by Domenico Iaria, Adriana Chiappetta, Innocenzo Muzzalupo

“…In order to determine compatibility relationships, using next-generation sequencing techniques and a de novo transcriptome assembly strategy, we show that pollen tubes from different olive plants, grown in vitro in a medium containing its own pistil and in combination pollen/pistil from self-sterile and self-fertile cultivars, have a distinct gene expression profile and many of the differentially expressed sequences between the samples fall within gene families involved in the development of the pollen tube, such as lipase, carboxylesterase, pectinesterase, pectin methylesterase, and callose synthase. …”
Get full text

Optimal Molecular Methods in Detecting p190BCR-ABL Fusion Variants in Hematologic Malignancies: A Case Report and Review of the Literature by Rebecca J. Sonu, Brian A. Jonas, Denis M. Dwyre, Jeffrey P. Gregg, Hooman H. Rashidi

“…A concurrent qualitative PCR was performed which detected a positive BCR-ABL1 result that was confirmed by a next generation sequencing (NGS) based assay and identified as the rare fusion variant e1a3 of p190BCR-ABL. …”
Get full text