Results 141 to 150 of about 35,495 (229)

OntoLogX: Ontology‐Guided Knowledge Graph Extraction From Cybersecurity Logs With Large Language Models

Advanced Intelligent Systems, EarlyView.
OntoLogX is an autonomous AI agent that uses large language models to transform unstructured cyber security logs into ontology grounded knowledge graphs. By integrating retrieval augmented generation, iterative correction, and a light‐weight log ontology, OntoLogX produces semantically consistent intelligence that links raw log events to MITRE ATT & CK
Luca Cotti, Idilio Drago, Anisa Rula, Devis Bianchini, Federico Cerutti   +4 more
wiley   +1 more source

Progress, clinical application and challenges of non-invasive prenatal testing for monogenic diseases. [PDF]

Front Pediatr
Wang C, Hou D, Wang G, Wu X, Zhou Z, Yang L, Liu Y, Wang X.   +7 more
europepmc   +1 more source

Shapley Additive Explanation for Local Class Differentiation: Local Explainability for Class Differentiation in Classification Models

Advanced Intelligent Systems, EarlyView.
An instance‐level, model‐agnostic explanation of class differentiation is introduced through SHAP‐LCD, linking probability shifts to feature‐wise Shapley contributions. The method operates on tabular and image data and is released in a fully reproducible implementation, offering a transparent way to examine, at each instance, why predictive models ...
Roxana M. Romero Luna, Hugo A. Ordoñez Erazo, Carlos A. Cobos Lozada   +2 more
wiley   +1 more source

Phylogenetic and genomic insights into magnetosome biomineralization in magnetotactic Alphaproteobacteria. [PDF]

Appl Environ Microbiol
Zhang R, Liu P, Bai J, Zhu K, Liu Y, Roberts AP, Pan Y, Li J.   +7 more
europepmc   +1 more source

Clinical Insights From a Case of Sifrim‐Hitz‐Weiss Syndrome With a CHD4 Variant: Expanding the Phenotypic Spectrum and Its Response to Growth Hormone Therapy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT To enhance clinicians' understanding of Sifrim‐Hitz‐Weiss syndrome (SIHIWES), this study investigated the clinical phenotypes, genetic characteristics, and response to growth hormone therapy in a patient. A case of a patient with global developmental delay and distinctive facial features is presented.
Jianmei Zhang, Shuangzhong Chen, Guanping Dong, Suhong Yang, Ping Wang, Qiong Zhou, Pingping Wang   +6 more
wiley   +1 more source

Development, validation, and biomechanical evaluation of a high-fidelity finite element model of the forearm musculoskeletal system​. [PDF]

BMC Musculoskelet Disord
Shang RG, Xie SY, Liao LQ, Qin GZ, Zhu XY, Wang ZH, Xie JH, Li YK, Yang H, Gu RB.   +9 more
europepmc   +1 more source

The Novel ACTC1 p.Gly50Ser Variant Is Associated With Arrhythmia and Secondary Features of HCM Without Hypertrophy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The key diagnostic criterion for hypertrophic cardiomyopathy is the presence of otherwise unexplained hypertrophy. Current definitions of HCM rely on specific thresholds to establish a diagnosis, while guideline directed risk stratification algorithms take its magnitude into consideration.
Thomas D. Gossios, Dimitrios Ntelios, Thomas Zegkos, Despoina Parcharidou, Pavlos Rouskas, Sotirios Katranas, Ioannis Papoulidis, Vlasis Ninios, Antonios Ziakas, Georgios K. Efthimiadis   +9 more
wiley   +1 more source

Comprehensive evaluation of ACMG/AMP-based variant classification tools. [PDF]

Bioinformatics
Ghasemnejad T, Liang Y, Jahanian KH, Eidi M, Salmaninejad A, Abedini SS, Horta F, Lovell NH, Porntaveetus T, Grosser M, Aarabi M, Alinejad-Rokny H.   +11 more
europepmc   +1 more source

Atypical Clinical Course of Griscelli Syndrome Type 2 With Primarily Neurologic Presentation and Adult‐Onset in a 46‐Year‐Old Male

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Griscelli Syndrome Type 2 (GS2) is a rare autosomal recessive disorder caused by pathogenic mutations in the RAB27A gene. Typically, it is characterized by cutaneous hypopigmentation, immunodeficiency, with or without neurological abnormalities secondary to hemophagocytic lymphohistiocytosis (HLH). Without treatment, GS2 often results in fatal
Dzhoy Papingi, Michael Kutsche, Helena Lichtenfeld, Fanny Kortüm, Angela Abicht, Laura Herrmann, Theresia Herget   +6 more
wiley   +1 more source

Co-occurring DMD, GJA1, and novel FYCO1 variants in a proband from a consanguineous oculodentodigital dysplasia family: a rare multi-locus case report. [PDF]

Front Genet
Abhishek K, Mohanta NK, John J, Panda S, Satapathy AK, Rattan R, Ramchander PV.   +6 more
europepmc   +1 more source