GENomE wide analysis of sotalol-induced IKr inhibition during ventricular REPOLarization, "GENEREPOL study": Lack of common variants with large effect sizes. by Joe-Elie Salem, Marine Germain, Jean-Sébastien Hulot, Pascal Voiriot, Bruno Lebourgeois, Jean Waldura, David-Alexandre Tregouet, Beny Charbit, Christian Funck-Brentano

“…A random subsample of 489 individuals were subjected to a genome-wide-association analysis where 8,306,856 imputed single nucleotide polymorphisms (SNPs) were tested for association with QTc, TpTe and TAmp modulations, as well their derived principal-components, to search for common genetic variants associated with sotalol-induced IKr inhibition. …”
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Leveraging Quantum LSTM for High-Accuracy Prediction of Viral Mutations by Prashanth Choppara, Bommareddy Lokesh

“…TF-IDF helps the model focus on the most informative nucleotide features, while PCA reduces the size of the data, making the model computationally efficient without sacrificing important information. …”
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Predicting conversion of Alzheimer’s disease based on multi-modal fusion of neuroimaging and genetic data by Yang Xi, Qian Wang, Chenxue Wu, Lu Zhang, Ying Chen, Zhu Lan

“…We proposed a classification method of sMCIs and pMCIs based on multi-modality data fusion of single-nucleotide polymorphisms (SNP), ratio of gray matter volume (RGV) obtained by morphometric measures, and sMRI images to predict the progression of AD. …”
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Restoration of Genetic Code in Macular Mouse Fibroblasts via APOBEC1-Mediated RNA Editing by Sonali Bhakta, Hiroko Kodama, Masakazu Mimaki, Toshifumi Tsukahara

“…Around 35% of the mutated C nucleotide (nt) was restored to U, demonstrating that our RNA editing system is reliable and has potential for therapeutic clinical application. …”
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Association of COMT Val158Met Polymorphism with Fibromyalgia in Khartoum State, Sudan by Safaa Mamoun Abdelmageid, Faisal Mousa Alamir, Hassan Yousif Abdelrahman, Hind Mohamed Abushama

“…Samples were genotyped for COMT single nucleotide polymorphism rs4680 (Val158Met), using the amplification-refractory mutation system (ARMS-PCR). …”
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Development of KASP markers, SNP fingerprinting and population genetic analysis of Cymbidium ensifolium (L.) Sw. germplasm resources in China by Baoming Shen, Airong Shen, Yun Tan, Lina Liu, Sainan Li, Zhuming Tan

“…In this study, we aimed to develop a set of single nucleotide polymorphism (SNP) markers to distinguish the main cultivated C. ensifolium cultivars in China and provide technical support for domestic cultivar protection, registration, and market rights protection. …”
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An insight into the genome-wide analysis of bacterial defense mechanisms in a uropathogenic Morganella morganii isolate from Bangladesh. by Syed Muktadir Al Sium, Barna Goswami, Sanjana Fatema Chowdhury, Showti Raheel Naser, Mihir Kanti Sarkar, Md Jobaid Faruq, Md Ahashan Habib, Shahina Akter, Tanjina Akhtar Banu, Md Murshed Hasan Sarkar, Md Salim Khan

“…A clinical isolate from a UTI patient in Bangladesh was subjected to high-throughput whole genome sequencing and extensive bioinformatics analysis in order to gather knowledge about the genomic basis of bacterial defenses and pathogenicity in M. morganii. With an average nucleotide identity (ANI) of more than 97% similarity to a reference genome and phylogenetic analysis verified the isolate as M. morganii. …”
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Network Graph Analysis of Gene-Gene Interactions in Genome-Wide Association Study Data by Sungyoung Lee, Min-Seok Kwon, Taesung Park

“…The proposed method was applied to Korean Association Resource (KARE) data, containing 8838 individuals with 327,632 single-nucleotide polymorphisms, in order to perform GxG interaction analysis of body mass index (BMI). …”
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A genomic analysis of twinning rate and its relationship with other reproductive traits in Holstein-Friesian cattle by Brian W. Kirkpatrick, Donagh P. Berry

“…Full genome sequence data imputed from ∼50,000 single nucleotide polymorphisms were available for all sires. …”
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Prioritization of causal genes from genome-wide association studies by Bayesian data integration across loci. by Zeinab Mousavi, Marios Arvanitis, ThuyVy Duong, Jennifer A Brody, Alexis Battle, Nona Sotoodehnia, Ali Shojaie, Dan E Arking, Joel S Bader

“…<h4>Motivation</h4>Genome-wide association studies (GWAS) have identified genetic variants, usually single-nucleotide polymorphisms (SNPs), associated with human traits, including disease and disease risk. …”
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TLR7 Polymorphism (rs179008 and rs179009) in HIV-Infected Individual Naïve to ART by HariOm Singh, Dharmesh Samani, Sumit Aggarwal

“…Toll-like receptors (TLRs) play an important role in the innate immune response to HIV infection. Single nucleotide polymorphism (SNP) in TLR7 (Gln11Leu) gene has been associated with a rapid decline of CD4T cell count. …”
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Phylogenetic analysis and the spatial spread of arctic rabies virus in Chukotka by Sergey A. Chupin, Aleksandr D. Botvinkin, Ivan D. Zarva, Elena V. Chernyshova

“…Among them two different pools were identified which demonstrate maximum nucleotide sequence identity with the Arctic-3 isolates from Greenland, the Svalbard Archipelago and Northern Canada. …”
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Involvement of transposable elements in neurogenesis by R. N. Mustafin, E. K. Khusnutdinova

“…These genes are involved in an epigenetic regulatory network with the participation of transposons, since they contain nucleotide sequences complementary to miRNA and long non-coding RNA formed from transposons. …”
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Investigating the role of iron status in the development of coeliac disease: a Mendelian randomisation study by Isabel A Hujoel, Margaux Louise Anna Hujoel

“…We aimed to evaluate this possible association with Mendelian randomisation (MR), which under certain assumptions can suggest a causal relationship.Design We conducted a two-sample MR study examining the relationship between single nucleotide polymorphisms (SNPs) associated with iron status and the presence of coeliac disease. …”
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The relationship of lamins with epigenetic factors during aging by R. N. Mustafin, E. K. Khusnutdinova

“…We suggest that lamins can be attributed to epigenetic factors, since they are part of the NURD, interact with histone deacetylases and regulate gene expression without changing the nucleotide sequences. The role of lamins in the etiopathogenesis of premature aging syndromes may be associated with interactions with transposons. …”
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Coronary artery disease-associated genetic variants and biomarkers of inflammation. by Morten Krogh Christiansen, Sanne Bøjet Larsen, Mette Nyegaard, Søs Neergaard-Petersen, Ramzi Ajjan, Morten Würtz, Erik Lerkevang Grove, Anne-Mette Hvas, Henrik Kjærulf Jensen, Steen Dalby Kristensen

“…Several CAD-associated single-nucleotide polymorphisms (SNPs) have recently been identified, but their functions are largely unknown. …”
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Combining and congruence evaluation of phylogenetic signals from different genes based on geometric approach by V. M. Efimov, V. Yu. Kovaleva, Yu. N. Litvinov

“…The algorithm is used for the analysis of more than 1500 nucleotide sequences of two nuclear (apoB, brca1) and two mitochondrial (co1, cytb) genes of 15 Palaearctic and Nearctic shrews species of genus Sorex (Soricidae, Eulipotyphla). …”
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Recent advances in genetics of aggressive behavior by J. D. Davydova, S. S. Litvinov, R. F. Enikeeva, S. B.  Malykh, E. K. Khusnutdinova

“…An important role in development of aggressive behavior belongs to the hereditary factors that may be linked to abnormal functioning of neurotransmitter systems in the brain yet the underlying genetic mechanisms remain unclear, which is due to a large number of single nucleotide polymorphisms, insertions and deletions in the structure of genes that encode the components of the neurotransmitter systems. …”
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Comprehensive Analysis of Breast Cancer Cell Lines: Genome-wide Insights from ChIP-seq Analysis by Tanishq Sahu, Ruchi Yadav

“…Settings and Design: Breast cancer ChIP-seq data have been retrieved from the European Nucleotide Archive database with project Id PRJNA415426 short read archive. …”
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Making complex things simpler: modern tools to edit the plant genome by N. E. Zlobin, V. V. Ternovoy, N. A. Grebenkina, V. V. Taranov

“…Experimental data on the relationship between editing efficiency and nucleotide sequence of guide RNA are generalized. We also give the characteristic for different variants of nucleases used for plant genome editing and discuss their benefits for different experimental purposes. …”
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