An Extraordinary Case of Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED) Syndrome Misdiagnosed as Juvenile Idiopathic Arthritis on Admission by Gulcin Aytac, Burcu Guven, Ilyas Aydin, Ezgi Topyildiz, Ayca Aykut, Asude Durmaz, Neslihan Edeer Karaca, Guzide Aksu, Necil Kutukculer

“…The parents were consanguineous, and targeted next-generation sequencing was performed. A homozygous mutation in the AIRE gene SAND domain (c.769C > T, p.Arg257Ter) was detected, and the patient was diagnosed with APECED syndrome. …”
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Bringing bioinformatics to schools with the 4273pi project. by Stevie A Bain, Heleen Plaisier, Felicity Anderson, Nicola Cook, Kathryn Crouch, Thomas R Meagher, Michael G Ritchie, Edward W J Wallace, Daniel Barker

“…Over the last few decades, the nature of life sciences research has changed enormously, generating a need for a workforce with a variety of computational skills such as those required to store, manage, and analyse the large biological datasets produced by next-generation sequencing. Those with such expertise are increasingly in demand for employment in both research and industry. …”
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Circulating Dynamics of SARS-CoV-2 Variants between April 2021 and February 2022 in Turkey by Murat Sayan, Ayse Arikan, Murat Isbilen

“…In the current study, spike-genome next-generation sequencing was generated from 492 SARS-CoV-2 isolates to evaluate the mutations in Turkey from April 2021 to February 2022. …”
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The Relevance of HLA Sequencing in Population Genetics Studies by Alicia Sanchez-Mazas, Diogo Meyer

“…Next generation sequencing (NGS) is currently being adapted by different biotechnological platforms to the standard typing method for HLA polymorphism, the huge diversity of which makes this initiative particularly challenging. …”
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Gut-Lung Microbiota in Chronic Pulmonary Diseases: Evolution, Pathogenesis, and Therapeutics by Chang Yi Shi, Chen Huan Yu, Wen Ying Yu, Hua Zhong Ying

“…Recent advances in next-generation sequencing technology have disclosed the pivotal roles of lung-gut microbiota in the pathogenesis of chronic respiratory diseases. …”
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Perinatal Lethal Gaucher Disease due to RecNcil Recombinant Mutation in the GBA Gene Presenting with Hydrops Fetalis and Severe Congenital Anemia by Ekta Bhutada, Timothy Pyragius, Scott G. Petersen, Frans Niemann, Admire Matsika

“…DNA extracted from fetal tissue was submitted for analysis by next generation sequencing which revealed homozygosity for the RecNcil mutation in the GBA gene. …”
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Mutanome Engineered RNA Immunotherapy: Towards Patient-Centered Tumor Vaccination by Mathias Vormehr, Barbara Schrörs, Sebastian Boegel, Martin Löwer, Özlem Türeci, Ugur Sahin

“…In this review, we describe a process, which integrates next generation sequencing based cancer mutanome mapping, in silico target selection and prioritization approaches, and mRNA vaccine manufacturing and delivery into a process we refer to as MERIT (mutanome engineered RNA immunotherapy).…”
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The relationship between mutation carriage of BRCA1/2 and clinicopathological characteristics in women with breast cancer – experience from a diagnostic centre in Turkey by Neslihan Duzkale, Onur Can Guler, Suat Kutun, Canan Emiroglu, Serdar Saridemir, Aysun Gokce, Olcay Kandemir, Tugba Taskın Turkmenoglu, Serap Yorubulut, Bahadır Kulah

“…In 170 female patients with BC, BRCA1/2 genes were investigated using Next Generation Sequencing. Demographic and clinicopathological characteristics of the patients and correlations of pedigree analysis with BRCA1/2 mutation status were analysed. …”
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Imatinib-resistance without BCR/ABL Point Mutation in Chronic Myeloid Leukemia by Aytan Shirinova

“…The patient did not achieve a major molecular response (MMR). Next-generation sequencing using a 54 myeloid-targeted gene panel was negative for ABL1 L248V, G250E, Y253H, E255K, F311L, T315I, F317L, F311I, M351T, and other point mutations. …”
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Comparison of the Genetic Alterations between Primary Colorectal Cancers and Their Corresponding Patient-Derived Xenograft Tissues by Sang Mi Yu, Seung-Hyun Jung, Yeun-Jun Chung

“…In this study, we analyzed the genetic alterations of three primary colorectal cancers (CRCs) and matched xenograft tissues in PDX models using a next-generation sequencing cancer panel. Of the 17 somatic mutations identified from the three CRCs, 14 (82.4%) were consistently identified in both primary and xenograft tumors. …”
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A Novel p.G141R Mutation in ILDR1 Leads to Recessive Nonsyndromic Deafness DFNB42 in Two Chinese Han Families by Xueling Wang, Longhao Wang, Hu Peng, Tao Yang, Hao Wu

“…In this study, targeted next-generation sequencing (NGS) in two Chinese Han families identified a novel p.G141R homozygous mutation in ILDR1 as the genetic cause of the deafness. …”
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Identification of Novel Causal FBN1 Mutations in Pedigrees of Marfan Syndrome by Yueli Wang, Xiaoyan Li, Rongjuan Li, Ya Yang, Jie Du

“…In the present study, three affected MFS pedigrees were collected for genetic analysis. Using next-generation sequencing (NGS) technologies, 3 novel frameshift pathogenic mutations which are cosegregated with affected subjects in 3 pedigrees were identified. …”
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Deciphering genomic complexity: Understanding intratumor heterogeneity, clonal evolution, and therapeutic vulnerabilities in oral squamous cell carcinoma by Vishnu Priya Veeraraghavan, Bharati R. Doni, Arun Kumar Dasari, Chaitra Patil, Krishna A. Rao, Santosh R. Patil

“…Key driver mutations and therapeutic vulnerabilities were identified using next-generation sequencing and functional genomics approaches. …”
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Developing a Preliminary Clinical Prediction Model for Prognosis of Pneumonia Complicated with Heart Failure Based on Metagenomic Sequencing by Rongyuan Yang, Yong Duan, Dawei Wang, Qing Liu

“…The predictive factors of prognosis in patients with pneumonia complicated with heart failure (HF) have not been fully investigated yet, especially with the use of next-generation sequencing (NGS) of metagenome. Methods. Patients diagnosed with pneumonia complicated with HF were collected and divided into control group and NGS group. …”
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Melanoma genomics – will we go beyond BRAF in clinics? by Justyna Mirek, Wiesław Bal, Magdalena Olbryt

“…Abstract In the era of next-generation sequencing, the genetic background of cancer, including melanoma, appears to be thoroughly established. …”
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Association of PIK3CA somatic mutations with clinicopathological parameters in breast cancer by Gizem Teoman, Zeynep Turkmen Usta, Zeynep Sagnak Yilmaz, Sevdegul Aydin Mungan, Ismail Saygin

“…We conducted a mutational investigation of the PIK3CA gene using next-generation sequencing (NGS) in a sample of 100 cases of primary breast cancer. …”
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Acute Necrotizing Fasciitis Caused by Rhizopus Infection in a Patient with Diabetes and Pulmonary Tuberculosis: A Case Report by Huang X, Qiu J, Pan L, Wang C, Tang C

“…Metagenomic next-generation sequencing (mNGS) facilitated a swift diagnosis, identifying R. oryzae in blood and drainage samples. …”
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Mutations in Mycobacterium tuberculosis Isolates with Discordant Results for Drug-Susceptibility Testing in Peru by L. Solari, D. Santos-Lazaro, Z. M. Puyen

“…Discordance was confirmed by repeating both tests, and WGS was performed, using the Next Generation Sequencing methodology. Obtained sequences were aligned “through reference” (genomic mapping) using the program BWA with the algorithm “mem”, using as a reference the genome of the M. tuberculosis H37Rv strain. …”
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Advancing Insights into Large-Artery Stiffening in Humans Through the Application of Multi-omics by Marie-Joe Dib

“…This review aims to (i) provide an overview of insights from genetic research on LAS pathophysiology, and explore the scope of next-generation sequencing methods in the field arterial research; (ii) shed light on the utility of emerging state-of-the-art multi-omics approaches to unravel mechanisms underlying LAS to identify candidate therapeutic targets; (iii) highlight the potential of emerging state-of-the-art integrative multi-omics, motivating their use to address current gaps in understanding sex- and ancestry-specific mechanisms of LAS.…”
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A generative adversarial network for multiple reads reconstruction in DNA storage by Xiaodong Zheng, Ranze Xie, Xiangyu Yao, Yanqing Su, Ling Chu, Peng Xu, Wenbin Liu

“…This means that the proposed DNA-GAN can be applied on 3rd generation nanopore sequencing environments, while the transformer-based models are only tested on next-generation sequencing datasets. Furthermore, DNA-GAN exhibits excellent robustness even when as much as 20% of the clusters are contaminated with irrelevant reads. …”
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