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1دورية أكاديمية
المؤلفون: Flint, Jonathan, Heffel, Matthew G, Chen, Zeyuan, Mefford, Joel, Marcus, Emilie, Chen, Patrick B, Ernst, Jason, Luo, Chongyuan
المصدر: Cell Genomics. 3(12)
مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Genetics, Human Genome, 2.1 Biological and endogenous factors, Aetiology, hippocampus, inbred mouse strains, methylation, variant function
وصف الملف: application/pdf
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2دورية أكاديمية
المؤلفون: Yulin Dai, Toshiyuki Itai, Guangsheng Pei, Fangfang Yan, Yan Chu, Xiaoqian Jiang, Seth M. Weinberg, Nandita Mukhopadhyay, Mary L. Marazita, Lukas M. Simon, Peilin Jia, Zhongming Zhao
المصدر: HGG Advances, Vol 5, Iss 3, Pp 100312- (2024)
مصطلحات موضوعية: human embryonic craniofacial development, orofacial clefts, convolutional neural network, genome-wide association studies, variant function, epigenomic assay, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2666247724000514Test; https://doaj.org/toc/2666-2477Test
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3دورية أكاديمية
المؤلفون: Niccolo Alberto Elia Venanzi, Andrea Basciu, Attilio Vittorio Vargiu, Alexandros Kiparissides, Paul A. Dalby, Duygu Dikicioglu
مصطلحات موضوعية: Biophysics, Biochemistry, Genetics, Molecular Biology, Biotechnology, Cancer, Infectious Diseases, Plant Biology, Biological Sciences not elsewhere classified, Mathematical Sciences not elsewhere classified, Physical Sciences not elsewhere classified, Information Systems not elsewhere classified, multiple point mutations, machine learning algorithms, bovine enterokinase variants, achieve improved prediction, protein variant function, computational protein science, provide predictive insights, protein dynamics descriptors, sequence information alone, protein structure, protein functionality, structure information, predictive capabilities, study highlights, peptide sequence, industrial contexts, fold improvement, dynamic data
الإتاحة: https://doi.org/10.1021/acs.jcim.3c00999.s001Test
https://figshare.com/articles/journal_contribution/Machine_Learning_Integrating_Protein_Structure_Sequence_and_Dynamics_to_Predict_the_Enzyme_Activity_of_Bovine_Enterokinase_Variants/25267280Test -
4دورية أكاديمية
المؤلفون: Jessica C. McAfee, Sool Lee, Jiseok Lee, Jessica L. Bell, Oleh Krupa, Jessica Davis, Kimberly Insigne, Marielle L. Bond, Nanxiang Zhao, Alan P. Boyle, Douglas H. Phanstiel, Michael I. Love, Jason L. Stein, W. Brad Ruzicka, Jose Davila-Velderrain, Sriram Kosuri, Hyejung Won
المصدر: Cell Genomics, Vol 3, Iss 10, Pp 100404- (2023)
مصطلحات موضوعية: MPRA, schizophrenia, GWAS, non-coding variants, accessibility-by-contact model, variant function, Genetics, QH426-470, Internal medicine, RC31-1245
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2666979X23002185Test; https://doaj.org/toc/2666-979XTest
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5دورية أكاديمية
المؤلفون: Macnee, Marie, Pérez-Palma, Eduardo, López-Rivera, Javier A., Ivaniuk, Alina, May, Patrick, Møller, Rikke S., Lal, Dennis
المصدر: Macnee , M , Pérez-Palma , E , López-Rivera , J A , Ivaniuk , A , May , P , Møller , R S & Lal , D 2023 , ' Data-driven historical characterization of epilepsy-associated genes ' , European Journal of Paediatric Neurology , vol. 42 , pp. 82-87 . https://doi.org/10.1016/j.ejpn.2022.12.005Test
مصطلحات موضوعية: Epilepsy, Epilepsy genes, Genetics, Literature review, Monogenic, Variant function
وصف الملف: application/pdf
العلاقة: https://portal.findresearcher.sdu.dk/da/publications/77dbdd1f-a271-41cc-b6e6-f53a720d03a2Test
الإتاحة: https://doi.org/10.1016/j.ejpn.2022.12.005Test
https://portal.findresearcher.sdu.dk/da/publications/77dbdd1f-a271-41cc-b6e6-f53a720d03a2Test
https://findresearcher.sdu.dk/ws/files/218647927/Open_Access_Version.pdfTest -
6دورية أكاديمية
المساهمون: Department of Applied Mathematics
مصطلحات موضوعية: Unitary similarity in variant function, Generalized numerical radius, Pseudo spectrum
العلاقة: http://hdl.handle.net/10397/98637Test; 716; 729; 454; 2-s2.0-85019904714; AMA-0461; 6749308
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7دورية أكاديمية
المؤلفون: Dai, Yulin, Itai, Toshiyuki, Pei, Guangsheng, Yan, Fangfang, Chu, Yan, Jiang, Xiaoqian, Weinberg, Seth M, Mukhopadhyay, Nandita, Marazita, Mary L, Simon, Lukas M, Jia, Peilin, Zhao, Zhongming
المصدر: HGG Adv ; ISSN:2666-2477 ; Volume:5 ; Issue:3
مصطلحات موضوعية: SNP activity difference prediction, convolutional neural network, epigenomic assay, genome-wide association studies, human embryonic craniofacial development, noncoding variant, orofacial clefts, variant function
العلاقة: https://doi.org/10.1016/j.xhgg.2024.100312Test; https://pubmed.ncbi.nlm.nih.gov/38796699Test; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11193024Test/
الإتاحة: https://doi.org/10.1016/j.xhgg.2024.100312Test
https://pubmed.ncbi.nlm.nih.gov/38796699Test
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11193024Test/ -
8دورية أكاديمية
المؤلفون: Macnee, Marie, Perez-Palma, Eduardo, Lopez-Rivera, Javier A., Ivaniuk, Alina, May, Patrick, Møller, Rikke S., Lal, Dennis
المساهمون: Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group)
المصدر: European Journal of Paediatric Neurology (2022-12-13)
مصطلحات موضوعية: Epilepsy, monogenic, Literature review, Genetics, Variant function, Epilepsy genes, Human health sciences, Neurology, Life sciences, Genetics & genetic processes, Pediatrics, Sciences de la santé humaine, Neurologie, Sciences du vivant, Génétique & processus génétiques, Pédiatrie
العلاقة: https://www.ejpn-journal.com/article/S1090-3798Test(22)00170-2/fulltext; FNR16394868 - Epileptogenesis Of Genetic Epilepsies, 2021 (01/10/2021-.) - Alexander Skupin; urn:issn:1532-2130; https://orbilu.uni.lu/handle/10993/53119Test; info:hdl:10993/53119; https://orbilu.uni.lu/bitstream/10993/53119/1/MacNee%20EurJPedNeurol2022.pdfTest; scopus-id:2-s2.0-85145335345; info:pmid:36586220; wos:000921469700001
الإتاحة: https://doi.org/10.1016/j.ejpn.2022.12.005Test
https://orbilu.uni.lu/handle/10993/53119Test
https://orbilu.uni.lu/bitstream/10993/53119/1/MacNee%20EurJPedNeurol2022.pdfTest -
9دورية أكاديمية
المؤلفون: Alexis M. Thornton (11068403), Lishan Fang (10101825), April Lo (11068406), Maria McSharry (11068409), David Haan (11068412), Casey O’Brien (4671856), Alice H. Berger (11068415), Marios Giannakis (3564314), Angela N. Brooks (11068418)
مصطلحات موضوعية: Biochemistry, Medicine, Microbiology, Genetics, Molecular Biology, Physiology, Cancer, Infectious Diseases, Virology, Biological Sciences not elsewhere classified, RAS, RNF 43 R 117fs RNF 43 G 659fs, KRAS, eVIP 2 software, Additional eVIP Pathways analysis, expression-based variant impact phe., Western blot analysis, change-of-function mutation, G 659fs variants, RNF 43 WT, GOF, eVIP 2 method, GFP control cDNA, gene variants, RNF 43 WT function, gene variant function, decision tree-based algorithm, eVIP 2, RNF 43 G 659fs, HEK 293T cells
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10دورية أكاديمية
المؤلفون: Alexis M. Thornton (11068403), Lishan Fang (10101825), April Lo (11068406), Maria McSharry (11068409), David Haan (11068412), Casey O’Brien (4671856), Alice H. Berger (11068415), Marios Giannakis (3564314), Angela N. Brooks (11068418)
مصطلحات موضوعية: Biochemistry, Medicine, Microbiology, Genetics, Molecular Biology, Physiology, Cancer, Infectious Diseases, Virology, Biological Sciences not elsewhere classified, RAS, RNF 43 R 117fs RNF 43 G 659fs, KRAS, eVIP 2 software, Additional eVIP Pathways analysis, expression-based variant impact phe., Western blot analysis, change-of-function mutation, G 659fs variants, RNF 43 WT, GOF, eVIP 2 method, GFP control cDNA, gene variants, RNF 43 WT function, gene variant function, decision tree-based algorithm, eVIP 2, RNF 43 G 659fs, HEK 293T cells