Genotype-phenotype insights of pediatric dilated cardiomyopathy by Ying Dai, Yan Wang, Youfei Fan, Bo Han

“…With the development of gene sequencing technologies, considerable progress has been made in genetic research on DCM. …”
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Multisystem Myotilinopathy, including Myopathy and Left Ventricular Noncompaction, due to the MYOT Variant c.179C>T by Josef Finsterer, Claudia Stöllberger, Matthias Hasun, Korbinian Riedhammer, Mathias Wagner

“…Clinical exam revealed mild quadruparesis and proximal wasting of the legs. Whole exome sequencing revealed a known variant in the MYOT gene. …”
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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

“…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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Shortest-Path Optimization of Ship Diesel Engine Disassembly and Assembly Based on AND/OR Network by Deng-Zhi Chen, Chen Wei, Guo-Ling Jia, Zhi-Hua Hu

“…Then, we devised a mixed-integer linear program (MILP) to optimize the SDEDA sequence based on the AND/OR network. Considering the flow balance in the AND/OR network, we developed exact algorithms and random search algorithms using breadth-first, branch cut and depth-first strategies to minimize the cost of the shortest path that represents an optimal sequence of D&A operations. …”
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Molecular Analysis of Activation-Induced Cytidine Deaminase Gene in Immunoglobulin-E Deficient Patients by Sergio Roa, Maria Isidoro-Garcia, Ignacio Davila, Elena Laffond, Felix Lorente, Rogelio Gonzalez-Sarmiento

“…Conformational sensitive gel electrophoresis (CSGE) and sequencing analysis of AICDA coding sequences demonstrated sequence heterogeneity due to 5923A/G and 7888C/T polymorphisms, but did not reveal any novel mutation that might explain the selective IgE deficit.…”
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Novel IL2RG gene mutation causing primary combined immunodeficiency disease: A case report and literature review by Fang Cao, Yingyu Shi, Fang Deng, Yu Yan

“…Immunological assessment revealed abnormalities in immunoglobulin levels and T-cell distribution, suggesting a potential immune deficiency. Whole exome sequencing did not identify any genetic variants highly associated with and definitively pathogenic for bronchiectasis but detected a compound heterozygous missense mutation c.420A>T (p.R140S) in the IL2RG gene, linked to primary combined immunodeficiency (CID), a clinical phenotype rarely reported in China due to this gene mutation. …”
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Comparison of DNA Extraction Methods for the Detection of Canned Tuna Species with DNA Mini-Barcoding by Aubrey J. Emmi, Biola Fatusin, Rosalee S. Hellberg

“…Tuna is susceptible to species mislabeling due to its high demand, quick rate of production, and wide range of price points. DNA barcoding, a sequencing-based technique, allows for the detection of species mislabeling by targeting a standardized region of DNA. …”
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Geographic Distribution Patterns of Soil Microbial Community Assembly Process in Mangrove Constructed Wetlands, Southeast China by Ping Hu, Qiong Yang

“…In this study, the assembly and processes of the soil microbial communities in this constructed wetland were intensively investigated using high-throughput sequencing technology. Our results showed that the three mangrove plants had significant effects on the soil bacterial microbial community α-diversity, insignificant effects on β-diversity, and significant effects on fungal α-diversity and β-diversity. …”
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CysQ of , a Protozoa, May Have Been Acquired from Bacteria by Horizontal Gene Transfer by Ji Young Lee, Sangsoo Kim

“…Cryptosporidium parvum is a parasitic protozoan that causes an infectious disease. Its genome sequencing reported 14 bacteria-like proteins in the nuclear genome. …”
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The role of epigenetics in plant pathogens interactions under the changing environments: A systematic review by Wenhao Wu, Guoqiang Fan

“…Advances in high-throughput sequencing and CRISPR-based tools are shedding light on these complex interactions, offering opportunities to engineer crops with enhanced disease resistance. …”
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Early life gut microbiome and its impact on childhood health and chronic conditions by Harold Nunez, Pamela A. Nieto, Ruben A. Mars, Maryam Ghavami, Cheryl Sew Hoy, Kimberley Sukhum

“…Some of these challenges are technical, such as lack of standardized stool collection protocols, inconsistent DNA extraction methods, and outdated sequencing technologies. Other challenges are methodological: small sample sizes, lack of longitudinal studies, and poor control of confounding variables. …”
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Multiple Adenomatous Duodenal Polyposis by Zdena Zádorová, Jan Hajer, Václav Mandys

“…Afterwards we screened the patient for germline MYH mutations using the denaturing high-performance liquid chromatography (DHPLC) in combination with sequencing. No novel pathogenic mutation has been identified. …”
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<i>Cyperus esculentus</i> var. <i>sativus</i> Adapts to Multiple Heavy Metal Stresses Through the Assembly of Endophytic Microbial Communities by Qiaofeng Liu, Jialing Lai, Yaozhong Zhang, Xin Wang

“…In this study, high-throughput sequencing was used to analyze the species diversity and functions of endophytes in <i>Cyperus esculentus</i> var. …”
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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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Morphological and functional convergence of visual projection neurons from diverse neurogenic origins in Drosophila by Rana Naja El-Danaf, Katarina Kapuralin, Raghuvanshi Rajesh, Félix Simon, Nizar Drou, Filipe Pinto-Teixeira, Mehmet Neset Özel, Claude Desplan

“…To address their origin, we used single-cell mRNA sequencing to define the transcriptome of LCN subtypes and identified lines that are expressed throughout their development. …”
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Antibacterial activity of Streptomyces spp. crude extract on multidrug resistant Psedomonas aeruginosa isolated from clinical samples by Zainab Hasan Abed, Eman Mohammad Jarallah

“…Conclusion: The isolates St6 and St12 showed the higher antimicrobial metabolites activity, so these isolates were elected for sequencing.…”
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Adrenal Hypoplasia Congenita Presenting as Congenital Adrenal Hyperplasia by Jennifer L. Flint, Jill D. Jacobson

“…The marked elevation in 11-deoxycortisol directed our clinical reasoning away from a hypoplastic condition and towards a hyperplasic adrenal condition. Sequencing of the DAX1 gene (named for dosage-sensitive sex reversal (DSS) locus and the AHC locus on the X chromosome) revealed a missense mutation. …”
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An improved chromosome-level genome assembly and annotation of Hong Kong catfish (Clarias fuscus) by Yu Chen, Xinghua Lin, Dayan Zhou, Yulei Zhang, Qian Wang, Huapu Chen, Dongneng Jiang, Siping Deng, Guangli Li, Peipei Wang, Changxu Tian

“…To facilitate further genetic research and breeding programs in this species, we generated an improved high-quality chromosome-level genome assembly of a female C. fuscus using MGI, PacBio, and Hi-C sequencing technologies. The final genome assembly spans 982.84 Mb, with contig and scaffold N50 values of 36.16 Mb and 37.66 Mb, respectively, and successfully anchors 99.60% of the sequences to 28 pseudochromosomes. …”
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M6A Modification and Transcription Analysis of LncRNA in Cerebral Ischemia/Reperfusion Injury by Jierong Mo, Zhiquan Li, Zhengfei Yang, Zuhua Huang, Pengpeng Guo, Jianfeng Gao, Haiqiong xiao, Ping Ye, Haini Qin, Tianen Zhou, Jun Jiang

“…In this study, the transcriptional level and methylation modification level of LncRNAs before and after mechanical thrombectomy were compared by high-throughput sequencing. Venn diagram, Spearman correlation analysis, Gene Ontology (GO), Kyoto Encyclopedia of Genes and Genomes (KEGG) enrichment analysis, TargetScan, and miRanda were used to analyze the experimental data. …”
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Case report: Complete response of recurrent locally advanced basal cell carcinoma following addition of vismodegib to neoadjuvant cemiplimab therapy by Chalette Lambert-Swainston, Wolfram Samlowski, Wolfram Samlowski, Wolfram Samlowski, Brandon Reynolds, Amin Hedayat, Amin Hedayat

“…Recently, hedgehog inhibitors and checkpoint inhibitors have demonstrated significant activity. The optimal sequencing of these approaches is not yet known. We describe a case of laBCC that recurred after definitive radiotherapy. …”
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