Large impact of genetic data processing steps on stability and reproducibility of set-based analyses in genome-wide association studies.

Συγγραφείς: Kui N; Department of Biostatistics, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, United States.; Department of Biostatistics and Data Science, School of Public Health, The University of Texas Health Science Center at Houston, Houston, TX 77030, United States., Yu Y; Department of Epidemiology, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, United States., Choi J; Department of Mathematical and Statistical Sciences, Marquette University, Milwaukee, WI 53233, United States., McCaw ZR; The Voleon Group, Berkeley, CA 94704, United States., Li X; Department of Biostatistics, The University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, United States.; Department of Genetics, The University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, United States., Scheet P; Department of Epidemiology, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, United States., Huff C; Department of Epidemiology, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, United States., Sun R; Department of Biostatistics, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, United States.

Πηγή: Genetics [Genetics] 2026 Sep 02; Vol. 234 (1).

Τύπος έκδοσης: Journal Article; Research Support, N.I.H., Extramural

Στοιχεία περιοδικού: Publisher: Oxford University Press Country of Publication: United States NLM ID: 0374636 Publication Model: Print Cited Medium: Internet ISSN: 1943-2631 (Electronic) Linking ISSN: 00166731 NLM ISO Abbreviation: Genetics Subsets: MEDLINE

Ιατρικοί όροι (MeSH): Genome-Wide Association Study*/methods , Genome-Wide Association Study*/standards, Humans ; Reproducibility of Results ; Models, Genetic ; Genetic Risk Score ; Models, Statistical ; Polymorphism, Single Nucleotide

Contextuality and Intersectionality of E-Consent: A Human-centric Reflection on Digital Consenting in the Emerging Genetic Data Markets

Συγγραφείς: Human, Soheil, Kazzazi, Mandan

Πηγή: 2021 IEEE European Symposium on Security and Privacy Workshops (EuroS&PW) EUROSPW Security and Privacy Workshops (EuroS&PW), 2021 IEEE European Symposium on. :307-311 Sep, 2021

Relation: 2021 IEEE European Symposium on Security and Privacy Workshops (EuroS&PW)

Processing of large amounts of personal genetic data: international regulatory issues and human rights challenges

Συγγραφείς: Petro Sukhorolskiy, Valeria Gutzaliuk

Πηγή: Ukrainian Journal of International Law. 1:40-49

The “Musculature” of Rights: The Processing of Genetic Data Between Data Protection Authority Safeguards and the Primacy of the Person ; La «muscolatura» dei diritti: il trattamento dei dati genetici tra garanzie del Garante e primato della persona

Συγγραφείς: Nacca, Stella

Πηγή: Diritto Pubblico Europeo. Rassegna on-line; Bd. 30 Nr. 2 speciale (2026): Diritto Pubblico Europeo Rassegna Online ; Diritto Pubblico Europeo. Rassegna on-line; Vol. 30 No. 2 speciale (2026): Diritto Pubblico Europeo Rassegna Online ; Diritto Pubblico Europeo. Rassegna on-line; Vol. 30 Núm. 2 speciale (2026): Diritto Pubblico Europeo Rassegna Online ; Diritto Pubblico Europeo. Rassegna on-line; Vol. 30 No 2 speciale (2026): Diritto Pubblico Europeo Rassegna Online ; Diritto Pubblico Europeo - Rassegna online; V. 30 N. 2 speciale (2026): Diritto Pubblico Europeo Rassegna Online ; 2421-0528 ; 10.6093/2421-0528/2026/2 speciale

Θεματικοί όροι: Dati genetici, dignità umana, Garante Privacy, autodeterminazione, governance dei dati genetici, Genetic data – human dignity – Italian Data Protection Authority – self-determination – genetic data governance

Θέμα γεωγραφικό: europe, Europa

Περιγραφή αρχείου: application/pdf

Relation: https://serena.sharepress.it/dperonline/article/view/13930/13922; https://serena.sharepress.it/dperonline/article/view/13930

Διαθεσιμότητα: https://serena.sharepress.it/dperonline/article/view/13930
https://doi.org/10.6093/2421-0528/13930

Human Vulnerability in Interactions with Digital Health—the Need for Ethics in AI Processing of Health and Genomic Data

Συγγραφείς: Arcuri, Maria Anastasia^Aff3

Συνεισφορές: Amodio, Claudia, editor^Aff1, Diurni, Amalia, editor^Aff2

Πηγή: Human Vulnerability in Interaction with AI in European Private Law. :195-212

End-to-End Security for Local and Remote Human Genetic Data Applications at the EGA

Συγγραφείς: Senf, A.

Πηγή: IEEE/ACM Transactions on Computational Biology and Bioinformatics IEEE/ACM Trans. Comput. Biol. and Bioinf. Computational Biology and Bioinformatics, IEEE/ACM Transactions on. 16(4):1324-1327 Aug, 2019

Genetic and environmental modulators of neural encoding associated to speech processing and their relationship with auditory skills

Συγγραφείς: Puddu Gallardo, Giannina

Συνεισφορές: University/Department: Universitat de Barcelona. Departament de Psicologia Clínica i Psicobiologia

Thesis Advisors: Via i García, Marc

Πηγή: TDX (Tesis Doctorals en Xarxa)

Θεματικοί όροι: Neurociències, Neurociencias, Neurosciences, Genètica humana, Genética humana, Human genetics, Cervell, Cerebro, Brain, Percepció, Percepción, Perception, Ciències de la Salut

Time: 616.8

Περιγραφή αρχείου: application/pdf

Σύνδεσμος πρόσβασης: http://hdl.handle.net/10803/694508

Dedicated hardware accelerators for the epistatic analysis of human genetic data

Συγγραφείς: Cancare, Fabio, Marin, Alessandro, Sciuto, Donatella

Πηγή: 2011 International Conference on Embedded Computer Systems: Architectures, Modeling and Simulation Embedded Computer Systems (SAMOS), 2011 International Conference on. :102-109 Jul, 2011

Relation: 2011 International Conference on Embedded Computer Systems: Architectures, Modeling, and Simulation (SAMOS XI)

Dual Attention Graph Convolutional Network Fusing Imaging and Genetic Data for Early Alzheimer’s Disease Diagnosis

Συγγραφείς: Jiaqiang Li, Peng Yang 0011, Junlong Qu, Bao Yang, Zhenghua Guan, Xuegang Song, Xiaohua Xiao, Tianfu Wang 0001, Baiying Lei

Πηγή: 2024 46th Annual International Conference of the IEEE Engineering in Medicine and Biology Society (EMBC). :1-4

Θεματικοί όροι: Early Diagnosis, Alzheimer Disease, Image Processing, Computer-Assisted, Humans, Neuroimaging, Neural Networks, Computer, Algorithms

Σύνδεσμος πρόσβασης: https://pubmed.ncbi.nlm.nih.gov/40039105

GSAP Regulates Lipid Homeostasis and Mitochondrial Function Associated with Alzheimer's Disease

Additional Titles: Biochemical, pathogenic, and human genetic data confirm that GSAP (γ-secretase activating protein), a selective γ-secretase modulatory protein, plays important roles in Alzheimer's disease (AD) and Down's syndrome. However, the molecular mechanism(s) underlying GSAP-dependent pathogenesis remains largely elusive. Here, through unbiased proteomics and single-nuclei RNAseq, we identified that GSAP regulates multiple biological pathways, including protein phosphorylation, trafficking, lipid metabolism, and mitochondrial function. We demonstrated that GSAP physically interacts with the Fe65-APP complex to regulate APP trafficking/partitioning. GSAP is enriched in the mitochondria-associated membrane (MAM) and regulates lipid homeostasis through the amyloidogenic processing of APP. GSAP deletion generates a lipid environment unfavorable for AD pathogenesis, leading to improved mitochondrial function and the rescue of cognitive deficits in an AD mouse model. Finally, we identified a novel GSAP single-nucleotide polymorphism that regulates its brain transcript level and is associated with an increased AD risk. Together, our findings indicate that GSAP impairs mitochondrial function through its MAM localization and that lowering GSAP expression reduces pathological effects associated with AD.

Συγγραφείς: Xu, Peng, Chang, Jerry C., Zhou, Xiaopu, Wang, Wei, Bamkole, Michael, Wong, Eitan, Bettayeb, Karima, Jiang, Lu-Lin, Huang, Timothy, Luo, Wenjie, Xu, Huaxi, Nairn, Angus C., Flajolet, Marc, Ip, Nancy Yuk-yu, Li, Yue-Ming, Greengard, Paul

Όροι ευρετηρίου: Article

Σύνδεσμος: http://repository.hkust.edu.hk/ir/Record/1783.1-111754
https://doi.org/10.1084/jem.20202446
http://lbdiscover.ust.hk/uresolver?url_ver=Z39.88-2004&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rfr_id=info:sid/HKUST:SPI&rft.genre=article&rft.issn=1540-9538&rft.volume=218&rft.issue=(8)&rft.date=2021&rft.spage=&rft.aulast=Xu&rft.aufirst=&rft.atitle=GSAP+regulates+lipid+homeostasis+and+mitochondrial+function+associated+with+Alzheimer%27s+disease&rft.title=The+Journal+of+experimental+medicine
http://www.scopus.com/record/display.url?eid=2-s2.0-85109116118&origin=inward
http://gateway.isiknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=LinksAMR&SrcApp=PARTNER_APP&DestLinkType=FullRecord&DestApp=WOS&KeyUT=000701785300001
https://repository.hkust.edu.hk/ir/bitstream/1783.1-111754/1/111754.pdf

Machine Learning-Driven Prognostic Modeling of Dengue from Human Genomic Profiles

Συγγραφείς: Kumar, P Lokesh, Nikitha, Aendhani, Vardhini, Surabhi Abhinaya, Rakshitha, Kothili, Harshini, Laddipeerla, Reddy, Polu Srinivas

Πηγή: 2026 International Conference on AI-Driven Smart Systems and Ubiquitous Computing (ICAUC) AI-Driven Smart Systems and Ubiquitous Computing (ICAUC), 2026 International Conference on. :1174-1179 Jan, 2026

Relation: 2026 International Conference on AI-Driven Smart Systems and Ubiquitous Computing (ICAUC)

Application of Machine Learning Techniques in the Development of Healthcare: Analyzing Genetic Data and Variants

Συγγραφείς: Devisri, B., Yuvabharathi, E., Samiappan, Dhandapani, S, Indumathi. G., U, Nagabalan, D, Parkavi.

Πηγή: 2025 IEEE 2nd International Conference on Information Technology, Electronics and Intelligent Communication Systems (ICITEICS) Information Technology, Electronics and Intelligent Communication Systems (ICITEICS), 2025 IEEE 2nd International Conference on. :1-6 Aug, 2025

Relation: 2025 IEEE 2nd International Conference on Information Technology, Electronics and Intelligent Communication Systems (ICITEICS)

Rules for processing genetic data for research purposes in view of the new EU General Data Protection Regulation

Συγγραφείς: Shabani, Mahsa, Borry, Pascal

Πηγή: European Journal of Human Genetics. 26:149-156

Θεματικοί όροι: Genetics & Heredity, 0301 basic medicine, Biochemistry & Molecular Biology, 0604 Genetics, 0303 health sciences, Science & Technology, CONSENT, 3202 Clinical sciences, 1103 Clinical Sciences, Human Genetics, 3105 Genetics, 3. Good health, 03 medical and health sciences, Health Records, Personal, PRINCIPLES, Humans, European Union, Genetic Privacy, Life Sciences & Biomedicine, Computer Security

Σύνδεσμος πρόσβασης: https://www.nature.com/articles/s41431-017-0045-7.pdf
https://pubmed.ncbi.nlm.nih.gov/29187736
https://lirias.kuleuven.be/handle/123456789/600486
https://doi.org/10.1038/s41431-017-0045-7

Nuclear genetic modulation of tissue-specific mitochondrial RNA processing contributes to common disease risk.

Συγγραφείς: Centanini E; Department of Medical and Molecular Genetics, School of Basic and Medical Biosciences, King's College London, London, UK.; Mitochondrial Neurobiology Laboratory, The Francis Crick Institute, London, UK., Pain O; Maurice Wohl Clinical Neuroscience Institute, Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK., Chinnery PF; Department of Clinical Neuroscience & Medical Research Council Mitochondrial Biology Unit, School of Clinical Medicine, University of Cambridge, Cambridge, UK., Hodgkinson A; Department of Medical and Molecular Genetics, School of Basic and Medical Biosciences, King's College London, London, UK. alan.hodgkinson@kcl.ac.uk.

Πηγή: Nature communications [Nat Commun] 2026 Apr 30; Vol. 17 (1). Date of Electronic Publication: 2026 Apr 30.

Τύπος έκδοσης: Journal Article

Στοιχεία περιοδικού: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE

Ιατρικοί όροι (MeSH): RNA, Mitochondrial*/genetics , RNA, Mitochondrial*/metabolism , Mitochondria*/genetics , Mitochondria*/metabolism , Cell Nucleus*/genetics , Cell Nucleus*/metabolism , RNA Processing, Post-Transcriptional*/genetics, DNA, Mitochondrial/genetics ; DNA, Mitochondrial/metabolism ; Organ Specificity/genetics ; Parkinson Disease/genetics ; Hypertension/genetics ; Humans ; Genetic Predisposition to Disease ; Genetic Variation ; UK Biobank

Multilevel Survival Modeling With Structured Penalties for Disease Prediction From Imaging Genetics Data

Συγγραφείς: Pascal Lu, Olivier Colliot

Συνεισφορές: Colliot, Olivier

Πηγή: IEEE Journal of Biomedical and Health Informatics. 26:798-808

Θεματικοί όροι: [INFO.INFO-AI] Computer Science [cs]/Artificial Intelligence [cs.AI], Cox Proportional Hazards, [SDV.NEU.NB] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, [INFO.INFO-IM] Computer Science [cs]/Medical Imaging, Group Lasso penalty, Brain, Imaging genetics, Multilevel model, Magnetic Resonance Imaging, 3. Good health, 03 medical and health sciences, [SDV.IB.IMA] Life Sciences [q-bio]/Bioengineering/Imaging, [INFO.INFO-CV] Computer Science [cs]/Computer Vision and Pattern Recognition [cs.CV], 0302 clinical medicine, [INFO.INFO-TI] Computer Science [cs]/Image Processing [eess.IV], Alzheimer Disease, Humans, Cognitive Dysfunction, Alzheimer's Disease, Algorithms, Survival model, [SPI.SIGNAL] Engineering Sciences [physics]/Signal and Image processing

Περιγραφή αρχείου: application/pdf

Σύνδεσμος πρόσβασης: https://hal.inria.fr/hal-03311509/file/lu2021_IEEEJBHI_postprint.pdf
https://pubmed.ncbi.nlm.nih.gov/34329174

Processing Large-Scale, High-Dimension Genetic and Gene Expression Data

Συγγραφείς: Molony, Cliona^Aff1_11, Sieberts, Solveig K.^Aff1_11, Schadt, Eric E.^Aff1_11

Συνεισφορές: Lin, Shili^AffID1, Zhao, Hongyu^AffID2

Πηγή: Handbook on Analyzing Human Genetic Data : Computational Approaches and Software. :307-330

Neural Network Approach in Gene-Disease Association Mining

Συγγραφείς: Roy, Sowpnil, Sarani, Sonya Rahman, Barua, Hridita, Ahona, Jannatul Maowa, Al-Mamun, S.M.A.

Πηγή: 2026 IEEE 2nd International Conference on Quantum Photonics, Artificial Intelligence & Networking (QPAIN) Quantum Photonics, Artificial Intelligence & Networking (QPAIN), 2026 IEEE 2nd International Conference on. :1-6 Apr, 2026

Relation: 2026 IEEE 2nd International Conference on Quantum Photonics, Artificial Intelligence & Networking (QPAIN)

The fetus's right to the privacy of genetic data. (English)

Συγγραφείς: Karami, Mehnoush, Zarvandi, Hossein

Πηγή: Interdisciplinary Studies in the Humanities; Summer2026, Vol. 18 Issue 3, p147-177, 40p

Θεματικοί όροι: Genetic privacy, Data protection laws, Legal doctrines, Bioethics, Legal representation, Prenatal diagnosis

Functional Neural Networks for High-Dimensional Genetic Data Analysis

Συγγραφείς: Zhang, S., Zhou, Y., Geng, P., Lu, Q.

Πηγή: IEEE/ACM Transactions on Computational Biology and Bioinformatics IEEE/ACM Trans. Comput. Biol. and Bioinf. Computational Biology and Bioinformatics, IEEE/ACM Transactions on. 21(3):383-393 Jun, 2024

Effects of depression status and genetic risk on emotional word processing in a large cohort.

Συγγραφείς: Herrera-Rivero M; Institute of Epidemiology and Social Medicine, University of Münster, Münster, Germany; Joint Institute for Individualisation in a Changing Environment (JICE), University of Münster and Bielefeld University, Münster, Germany. Electronic address: marisol.herrera@uni-muenster.de., Teismann H; Institute of Epidemiology and Social Medicine, University of Münster, Münster, Germany., Berger K; Institute of Epidemiology and Social Medicine, University of Münster, Münster, Germany.

Πηγή: Journal of affective disorders [J Affect Disord] 2026 Dec 15; Vol. 415, pp. 122507. Date of Electronic Publication: 2026 Sep 15.

Τύπος έκδοσης: Journal Article

Στοιχεία περιοδικού: Publisher: Elsevier/North-Holland Biomedical Press Country of Publication: Netherlands NLM ID: 7906073 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2517 (Electronic) Linking ISSN: 01650327 NLM ISO Abbreviation: J Affect Disord Subsets: MEDLINE

Ιατρικοί όροι (MeSH): Emotions*/physiology , Major Depressive Disorder*/genetics , Major Depressive Disorder*/psychology , Depression*/genetics , Depression*/psychology, Humans ; Female ; Male ; Genetic Risk Score ; Adult ; Cohort Studies ; Genetic Predisposition to Disease ; Middle Aged ; Genome-Wide Association Study ; Arousal