Mitochondrial trifunctional protein deficiency caused by a deep intronic deletion leading to aberrant splicing by Thomas Cassini, Sarah Silverstein, Molly Behan, Cynthia J. Tifft, May Christine Malicdan, David R. Adams, Undiagnosed Diseases Network, Sun‐Young Ahn, Debra S. Regier

“…No other variants were detected that were potentially causative for the FSGS and bone marrow failure on genome sequencing. A review of the literature at that time revealed several case reports of the uncommon clinical findings of FSGS, bone marrow failure, and pulmonary involvement in patients with TFP, confirming this clinical diagnosis as the complete explanation for these siblings.…”
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LongReadSum: A fast and flexible quality control and signal summarization tool for long-read sequencing data by Jonathan Elliot Perdomo, Mian Umair Ahsan, Qian Liu, Li Fang, Kai Wang

“…We also demonstrate a few examples using LongReadSum to analyze cDNA sequencing, direct RNA sequencing, ONT reduced representation methylation sequencing (RRMS), and whole genome sequencing (WGS) data.…”
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Isolation and characterization of a highly pathogenic strain of Vibrio harveyi EFL-2201 from pearl gentian grouper by Biao Yuan, Zhixia Zhuang, Xiaoru Wang, Huabin Huang, Qingpi Yan

“…In vitro assays indicated that the conditions during the outbreak were conducive to the proliferation, motility, biofilm formation, and chemotaxis of EFL-2201. Whole-genome sequencing of the strain revealed that mechanisms related to adhesion, secretion, toxins, and invasion significantly contributed to its pathogenicity. …”
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The WRKY Transcription Factor Genes in Lotus japonicus by Hui Song, Pengfei Wang, Zhibiao Nan, Xingjun Wang

“…The recent release of the L. japonicus whole genome sequence provides an opportunity for a genome wide analysis of WRKY genes in this species. …”
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Inference Attacks on Genomic Data Based on Probabilistic Graphical Models by Zaobo He, Junxiu Zhou

“…The rapid progress and plummeting costs of human-genome sequencing enable the availability of large amount of personal biomedical information, leading to one of the most important concerns — genomic data privacy. …”
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Exploring aneuploidies in two-center isolated bovine embryonic stem cell lines: Implications for cultured meat production by Chloë Deelkens, Elly De Vlieghere, Mario Van Poucke, Masaki Kinoshita, Jeffrey Aalders, Lieven Thorrez, Bert Devriendt, Ann Van Soom, Luc Peelman, Björn Menten, Catharina De Schauwer, Jolanda van Hengel

“…Through shallow whole-genome sequencing, we identified various chromosomal anomalies, including mono-, tri-, and tetrasomies, with specific gains in chromosomes 7, 12, 27, and 29, and losses in chromosome 9. …”
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Essential oils modulate virulence phenotypes in a multidrug-resistant pyomelanogenic Pseudomonas aeruginosa clinical isolate by Jayalekshmi Haripriyan, Christy Rose Binu, Nitasha D Menon, Muralidharan Vanuopadath, Malavika B. Hari, N Namitha, Kesiya Binoy, Anil Kumar, Bipin G. Nair, Victor Nizet, Geetha B. Kumar

“…Abstract Pyomelanogenic P. aeruginosa, frequently isolated from patients with urinary tract infections and cystic fibrosis, possesses the ability to withstand oxidative stress, contributing to virulence and resulting in persistent infections. Whole genome sequence analysis of U804, a pyomelanogenic, multidrug-resistant, clinical isolate, demonstrates the mechanism underlying pyomelanin overproduction. …”
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In vitro long-term exposure to chlorhexidine or triclosan induces cross-resistance against azoles in Nakaseomyces glabratus by Kathrin Spettel, Dominik Bumberger, Richard Kriz, Sarah Frank, Madita Loy, Sonia Galazka, Miranda Suchomel, Heimo Lagler, Athanasios Makristathis, Birgit Willinger

“…Susceptibility testing and whole genome sequencing of yeast isolates pre- and post-exposure were performed. …”
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Genome Structure of Bacillus cereus tsu1 and Genes Involved in Cellulose Degradation and Poly-3-Hydroxybutyrate Synthesis by Hui Li, Suping Zhou, Terrance Johnson, Koen Vercruysse, Ouyang Lizhi, Parthasarathy Ranganathan, Nsoki Phambu, Alexander J. Ropelewski, Theodore W. Thannhauser

“…In previous work, we reported on the isolation and genome sequence analysis of Bacillus cereus strain tsu1 NCBI accession number JPYN00000000. …”
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Animal Brucellosis in Egypt: Review on Evolution, Epidemiological Situation, Prevalent <i>Brucella</i> Strains, Genetic Diversity, and Assessment of Implemented National Control Me... by Ahmed M. S. Menshawy, Acacia Ferreira Vicente, Yamen M. Hegazy, Vitomir Djokic, Mahmoud E. R. Hamdy, Luca Freddi, Essam M. Elbauomy, Ashraf E. Sayour, Claire Ponsart, Nour H. Abdel-Hamid

“…MLVA-16 and Whole Genome Sequencing based on core-genome SNP analyses confirm the presence of different <i>B. abortus</i> and <i>B. melitensis</i> outbreak strains, both older widely disseminated <i>Brucella</i> strains and newly introduced ones. …”
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Detection and Phylogenetic Characterization of Influenza D in Swedish Cattle by Ignacio Alvarez, Fereshteh Banihashem, Annie Persson, Emma Hurri, Hyeyoung Kim, Mariette Ducatez, Erika Geijer, Jean-Francois Valarcher, Sara Hägglund, Siamak Zohari

“…Phylogenetic analysis was performed by the maximum likelihood estimation method on the whole IDV genome sequence from 16 samples. The IDV strains collected in 2021 (n = 7) belonged to the D/OK clade, whereas samples from 2023 (n = 4) and 2024 (n = 5) consisted of reassortants between the D/OK and D/660 clades, for the PB2 gene. …”
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<i>Salmonella</i> bacteria in farm animal feeds. Review by N. B. Shadrova, O. V. Pruntova, G. S. Skitovich, О. А. Akulich

“…A research into antimicrobial resistance of Salmonella isolates demonstrated resistance to such medicinalproducts as ceftriaxone, carbopenem and imipenem; and full genome sequencing showed at least one antibiotic resistance gene in 40% of Salmonella isolates detected at pig feed production plants.…”
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Genome Analysis of Rhodococcus Sp. DSSKP-R-001: A Highly Effective β-Estradiol-Degrading Bacterium by Hongyan Zhao, Kejian Tian, Qing Qiu, Yu Wang, Hongyan Zhang, Shuang Ma, Shenbao Jin, Hongliang Huo

“…For a better understanding of the metabolic potential of the strain, whole genome sequencing of Rhodococcus DSSKP-R-001 and annotation of the functional genes were performed. …”
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Truncated SPAG9 as a novel candidate gene for a new syndrome: Coarse facial features, albinism, cataract and developmental delay (CACD syndrome) by Majid Alfadhel, Bashayr S. Alhubayshi, Muhammad Umair, Ahmed Alfaidi, Deemah Alwadaani, Essra Aloyouni, Safdar Abbas, Abdulkareem Al Abdulrahman, Mohammed Aldrees, Abeer Al Tuwaijri, Ruaa S. Alharithy, Abdulaziz Alajlan, Abdulrahman Alswaid, Saad Almohrij, Sultan Al-Khenaizan

“…We identified two families (A and B) having multisystem features like coarse facial features, albinism, cataracts, skeletal abnormalities, and developmental delay. Whole genome sequencing (WGS) in families A and B revealed a homozygous frameshift variant (c.903del; p.Phe301Leufs*2) in the SPAG9 gene. …”
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Bioinformatics Analysis, Prokaryotic Expression and Biological Activity of Lysin from Vibrio parahaemolyticus Phage vB_VpP_1 by ZHANG Defu, YANG Wenjing, LIU Ke, LIU Qingqing, BAI Wutong, LI Fan, LÜ Xinran, BAI Xue, TAN Xiqian, LI Xuepeng, LI Jianrong

“…To study the in vitro cleavage effect of a recombinant lysin from bacteriophage vB_VpP_1 on Vibrio parahaemolyticus, the gp32 gene fragment of vB_VpP_1 was identified as a lysin gene according to the results of whole-genome sequencing (WGS) and functional analysis. The amino acid sequence and structure of gp32 were analyzed by various tools such as Expasy. …”
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Genetic and Molecular Characterization of Avian Influenza A(H9N2) Viruses from Live Bird Markets (LBM) in Senegal by Mamadou Malado Jallow, Moussa Moise Diagne, Marie Henriette Dior Ndione, Mamadou Aliou Barry, Ndiendé Koba Ndiaye, Davy Evrard Kiori, Marie Pedapa Mendy, Déborah Goudiaby, Gamou Fall, Malick Fall, Ndongo Dia

“…Among these, A/H9N2 was the only subtype detected in both markets, with a detection rate of 47.7% (82/172) in Thiaroye and 35.3% (42/119) in Tilene, resulting in an overall positivity rate of 42.6% (124/291). Genome sequencing of 22 A/H9N2 isolates, including 11 poultry drinking water samples, 7 carcass wash water samples, 3 fecal samples, and 1 cloacal swab, yielded 7 complete and 15 partial genomic sequences. …”
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Structural and functional divergence of homoeologous genes in allopolyploid plant genomes by A. Y. Glagoleva, O. Y. Shoeva, E. K. Khlestkina

“…Thanks to the whole genome sequencing of a wide range of angiosperm species and comparative analysis of genome structure, the sequence of events that formed the genomes of modern plant taxa was restored. …”
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Synthetic genomics in crop breeding: Evidence, opportunities and challenges by Yuhan Zhou, Ziqi Zhou, Qingyao Shu

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Transposable Elements and Genome Size Variations in Plants by Sung-Il Lee, Nam-Soo Kim

“…With a wealth of information on whole-genome sequences in plant genomes, it was revealed that several genome-purging mechanisms have been employed, depending on plant taxa. …”
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Protocol for profiling RNA m5C methylation at base resolution using m5C-TAC-seq by Xiaoting Zhang, Liang Lu, Chengqi Yi, Xiaoyu Li

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