Complementarity of Long‐Reads and Optical Mapping in Parkinson's Disease for Structural Variants
ABSTRACT Objective Long‐read sequencing and optical genome mapping technologies have the ability to detect large and complex structural variants. This has led to the discovery of novel pathogenic variants in neurodegenerative movement disorders. Thus, we aimed to systematically compare the SV detection capabilities of OGM and ONT in Parkinson's disease.
André Fienemann +17 more
wiley +1 more source
Whatever Happened to Formal Methods for Security? [PDF]
Voas J, Schaffer K.
europepmc +1 more source
Vestibular Patient Journey: Insights From Vestibular Disorders Association (VeDA) Registry
ABSTRACT Objective Vestibular symptoms impose a high burden of disability. Understanding real‐world diagnostic and treatment pathways can identify care gaps and guide interventions. We aimed to characterize symptom profiles, diagnostic trends, provider involvement, and treatment patterns in vestibular disorders.
Ali Rafati +10 more
wiley +1 more source
FoPA: identifying perturbed signaling pathways in clinical conditions using formal methods. [PDF]
Mansoori F, Rahgozar M, Kavousi K.
europepmc +1 more source
A Systematic Review and Meta‐Analysis of the Recurrence of Autoimmune Encephalitis
ABSTRACT Objective Autoimmune encephalitis (AE) is a disease with a potential for recurrence, and patients receive immunotherapy to prevent it. However, there is no consensus on the duration of immunotherapy. This study aimed to determine the recurrence rate and identify the risk factors for AE to provide guidance on the duration of immunotherapy ...
Shangkai Bai +5 more
wiley +1 more source
Formal methods for safety-critical machine learning: a systematic literature review. [PDF]
Newcomb A, Ochoa O.
europepmc +1 more source
Multidimensional Profiling of MRI‐Negative Temporal Lobe Epilepsy Uncovers Distinct Phenotypes
ABSTRACT Objective Although hippocampal sclerosis (TLE‐HS) represents the most frequent cause of temporal lobe epilepsy (TLE), up to 30% of patients show no lesion on visual MRI inspection (TLE‐MRIneg). These cases pose diagnostic and therapeutic challenges and are underrepresented in surgical series.
Alice Ballerini +28 more
wiley +1 more source
Biosensor characterization: formal methods from the perspective of proteome fractions. [PDF]
Vaccari NA +3 more
europepmc +1 more source
Editorial: Computational Methods for Understanding Complexity: The Use of Formal Methods in Biology. [PDF]
Rosenblueth DA.
europepmc +1 more source
Formal semantics of Message Sequence Charts
The document presents a formal definition of the semantics of Message Sequence Charts.
Mauw, S., Reniers, M.A., ITU, xx
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