Mutation Spectrum of the ABCA4 Gene in a Greek Cohort with Stargardt Disease: Identification of Novel Mutations and Evidence of Three Prevalent Mutated Alleles by Kamakari Smaragda, Kokkinou Vassiliki, Koutsodontis George, Stamatiou Polixeni, Giatzakis Christoforos, Anastasakis Anastasios, Aslanides Ioannis Minas, Koukoula Stavrenia, Panagiotoglou Theoni, Datseris Ioannis, Tsilimbaris K. Miltiadis

“…Direct sequencing improved significantly the complete characterization rate, that is, identification of two mutations compared to the microarray analysis (93.1% versus 50%). In total, 40 distinct potentially disease-causing variants of the ABCA4 gene were detected, including six previously unreported potentially pathogenic variants. …”
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Cytokine and Antibody Based Diagnostic Algorithms for Sputum Culture-Positive Pulmonary Tuberculosis. by Tao Chen, Jinfei Lin, Wei Wang, Joy Fleming, Liang Chen, Yunxia Wang, Haicheng Li, Huixin Guo, Jie Zhou, Xunxun Chen, Yuhui Chen, Qinghua Liao, Yang Shu, Yaoju Tan, Meiling Yu, Guozhou Li, Lin Zhou, Qiu Zhong, Lijun Bi, Lina Guo, Meigui Zhao

“…TB-related cytokines and TB-specific antibodies were detected in parallel with microarray technology. The diagnostic performance of the new protocol for active TB was systematically compared with other traditional methods.…”
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Performance and clinical implications of non-invasive prenatal testing for rare chromosomal abnormalities: a retrospective study of 94,125 cases by Haimei Qi, Haijun Chen, Zhuling Zhang, Jinhui Gan, Huifeng Liu, Xianping Yuan, Fuyu Luo, Junkun Chen, Shichun Shen

“…BackgroundNon-invasive prenatal testing (NIPT) has demonstrated robust performance in detecting common trisomies and copy number variations. …”
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Determination of Viral Nucleic Acid in the Human Blood by M. A. Abdurashitov, N. A. Netesova

“…Methods such as in situ hybridization, reverse transcription reaction (RT-PCR), nested PCR, multiplex PCR, as well as DNA microarray technology, and the method of massive parallel sequencing are considered in detail. …”
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Sequential prenatal diagnosis of fetal skeletal dysplasia: A cohort study by Mengting Jiang, Bin Zhang, Jing Wang, Wei Qiao, Xiuzhen Mao, Bin Yu

“…Abstract Introduction Genetic factors are considered to be the main factors leading to fetal skeletal dysplasia (SD), and chromosomal microarray analysis (CMA) has been used clinically for the detection of SD fetuses. …”
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Nanopore-based random genomic sampling for intraoperative molecular diagnosis by Francesco E. Emiliani, Abdol Aziz Ould Ismail, Edward G. Hughes, Gregory J. Tsongalis, George J. Zanazzi, Chun-Chieh Lin

“…Results In our retrospective cohort of 26 malignant brain tumors, iSCORED demonstrated 100% concordance in CNV detection, including chromosomal alterations and oncogene amplifications, when compared to clinically validated assays such as Next-Generation Sequencing and Chromosomal Microarray. …”
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Over-expression of either MECP2_e1 or MECP2_e2 in neuronally differentiated cells results in different patterns of gene expression. by Marija Orlic-Milacic, Liana Kaufman, Anna Mikhailov, Aaron Y L Cheung, Huda Mahmood, James Ellis, Peter J Gianakopoulos, Berge A Minassian, John B Vincent

“…DOCK8 was shown via microarray and qRT-PCR to be upregulated in both SK-N-SH cells and mouse fibroblasts. …”
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Comparative linkage meta-analysis reveals regionally-distinct, disparate genetic architectures: application to bipolar disorder and schizophrenia. by Brady Tang, Tricia Thornton-Wells, Kathleen D Askland

“…Since it is likely a majority of common variants of modest effect have been identified through the application of tagSNP-based microarray platforms (i.e., GWAS), alternative approaches robust to detection of low-frequency (1-5% MAF) and rare (<1%) variants are of great importance. …”
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Concave Magnetic-Responsive Hydrogel Discs for Enhanced Bioassays by Amin Ghaffarzadeh Bakhshayesh, Huiyan Li

“…This approach enables immediate preparation and customization of hydrogel properties such as porosity, magnetic responsiveness, and embedded particles and is adaptable for use with microarray printers. The concave design increased the surface area by 43% compared to conventional hemispherical hydrogels, enhancing diffusion rates and accelerating reactions. …”
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Hypoxia-Induced miR-210 Promotes Endothelial Cell Permeability and Angiogenesis via Exosomes in Pancreatic Ductal Adenocarcinoma by Guo Wu, Xiaojie Ding, Gang Quan, Jianwei Xiong, Qiang Li, Zhonghu Li, Yaqin Wang

“…The aim of this article was to identify and investigate abnormally expressed miRNAs in PDAC exosomes in vivo and in vitro. Methods. Microarray studies were used to detect aberrantly expressed miRNAs in PDAC exosomes, and miR-210 expression in cells or exosomes was further analyzed by qRT-PCR. …”
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CFS-MOES Ensemble Model on Metaheuristic Search-Based Feature Selection by Santosini Bhutia, Bichitrananda Patra, Mitrabinda Ray

“…Due to the availability of highly specialized cancer datasets, molecular classification of cancer by gene expression, machine learning, and deep learning, a part of artificial intelligence (AI) techniques is used in detecting the disease. The application of several classification and feature selection methods on microarray gene expression datasets helps learn models that are able to predict a given disease. …”
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RNA-Seq profiling reveals novel hepatic gene expression pattern in aflatoxin B1 treated rats. by B Alex Merrick, Dhiral P Phadke, Scott S Auerbach, Deepak Mav, Suzy M Stiegelmeyer, Ruchir R Shah, Raymond R Tice

“…PCA and cluster analysis of DEGs showed clear separation between AFB1 and CTRL treatments and concordance among group replicates. qPCR of eight high and medium DEGs and three low DEGs showed good comparability among RNA-Seq and microarray transcripts. DESeq analysis identified 1,026 differentially expressed transcripts at greater than two-fold change (p<0.005) compared to 626 transcripts by microarray due to base pair resolution of transcripts by RNA-Seq, probe placement within transcripts or an absence of probes to detect novel transcripts, splice variants and exons. …”
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Genetic test results and one-year developmental outcomes of fetuses with congenital heart disease by Hui Hu, Bo Zhou, Qunda Shan, Shuangshuang Shen, Xiangdong Zhang, Penglong Chen, Jiao Liu, Xiaofang Lan

“…The detection rate of CNV was significantly lower in fetuses with isolated cardiac abnormalities (P &lt; 0.05). …”
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Characterization of a MERS-related betacoronavirus in Danish brown long-eared bats (Plecotus auritus) by Camille Melissa Johnston, Vithiagaran Gunalan, Hans J. Baagøe, Anna S. Fomsgaard, Charlotta Polacek, Morten Rasmussen, Louise Lohse, Thomas Bruun Rasmussen

“…Positive samples underwent ORF1b sequencing, microarray analysis and Illumina MiSeq sequencing, followed by metagenomic assembly of full-length genomes. …”
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Directional genomic hybridization (dGH™) identifies small inverted duplications in situ by Thomas Liehr, Erin Cross, Stefanie Kankel

“…This technique may be used to identify the presence of small inversions within regions presenting a copy number gain as detected by chromosome microarray. Distinguishing small inverted duplications from direct duplications may have an impact on topologically associating domains (TADs) and, thus, on clinical outcome.…”
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Identification of Potential Biomarkers of Septic Shock Based on Pathway and Transcriptome Analyses of Immune-Related Genes by Jie Wang, Jie Cai, Linlin Yue, Xixi Zhou, Chunlin Hu, Hongquan Zhu

“…Our aim was to explore potential biomarkers for SS by pathway and transcriptional analyses of immune-related genes to improve early detection. GSE57065 and GSE95233 microarray data were used to screen differentially expressed genes (DEGs) in SS. …”
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Shannon entropy approach reveals relevant genes in Alzheimer's disease. by Alfonso Monaco, Nicola Amoroso, Loredana Bellantuono, Eufemia Lella, Angela Lombardi, Anna Monda, Andrea Tateo, Roberto Bellotti, Sabina Tangaro

“…Since complex diseases are often the result of combinations of gene interactions, microarray data and gene co-expression analysis can provide tools for addressing complexity. …”
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c-Triadem: A constrained, explainable deep learning model to identify novel biomarkers in Alzheimer's disease. by Sherlyn Jemimah, Ferial Abuhantash, Aamna AlShehhi

“…We trained the model with blood genotyping data, microarray, and clinical features from the Alzheimer's Neuroimaging Disease Initiative (ADNI). …”
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Genome-wide analysis of m6A-modified circRNAs in the mouse model of myocardial injury induced by obstructive sleep apnea by Jiuhuang Lan, Yuhui Wang, Chang Liu, Hongli Chen, Qingshi Chen

“…The results of MeRIP-qPCR were consistent with the microarray results. 73 pathways were detected in the up-regulated transcripts and no relevant pathways were detected in the down-regulated transcripts. …”
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Identification of MEG3 and MAPK3 as potential therapeutic targets for osteoarthritis through multiomics integration and machine learning by Bing Ma, Xiaoru Wang, Chengfei Xu, Zelin Xu, Fei Zhang, Wendan Cheng

“…Subsequently, differential expression analysis and WGCNA were applied to synovial tissue microarray datasets obtained from the GEO database. …”
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