Results 241 to 250 of about 66,699 (304)

Automating ACMG variant classifications with BIAS-2015 v2.1.1: algorithm analysis and benchmark against the FDA-approved eRepo dataset. [PDF]

Genome Med
Eisenhart C, Brickey R, Nadon B, Mewton J, Bayat V.   +4 more
europepmc   +1 more source

Plasma EV Proteomics Identifies ECM Remodeling and Inflammatory Proteins LUM and C7 as Candidate Biomarkers in FSHD

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Facioscapulohumeral muscular dystrophy (FSHD) is one of the most debilitating and common muscular dystrophies. Despite its severity, no approved therapy exists for FSHD patients. However, several therapeutic candidates are currently under development, and some have recently entered clinical trials, marking the need for reliable ...
Mustafa Bilal Bayazit, Chiranth K. Nagaraj, Jackson S. Newell, Kim Truc Nguyen, Xilal Y. Rima, Jacob Doon‐Ralls, Eduardo Reátegui, Jeffrey M. Statland, Rabi Tawil, Kevin M. Flanigan, Scott Q. Harper, Nizar Y. Saad   +11 more
wiley   +1 more source

Quantum ensembling methods for healthcare and life science. [PDF]

Brief Bioinform
Rhrissorrakrai K, Hamilton KE, Bangalore Parthasarathy P, Guzmán-Sáenz A, Gupta S, Alban T, Utro F, Parida L.   +7 more
europepmc   +1 more source

A 17 Year Old With Developmental Delay Presenting With Increasing Confusion and Imbalance

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Methylmalonic acidemia is an autosomal recessive genetic disorder primarily caused by defects in methylmalonyl‐CoA mutase and cobalamin (vitamin B12) metabolism. These defects disrupt the tricarboxylic acid cycle and oxidative phosphorylation, leading to the abnormal accumulation of metabolic products such as methylmalonic acid, propionic acid,
Wei Zhao, Yingli Zhang, Hongliang Zheng
wiley   +1 more source

Machine Learning-Based Prediction of Rule Violations for Drug-Likeness Assessment in Peptide Molecules Using Random Forest Models. [PDF]

Int J Mol Sci
Lambev M, Dimitrova D, Mihaylova S.
europepmc   +1 more source

Design, framework and benchmark of safety monitors for black-box classifiers. [PDF]

Sci Rep
Khokhar FA, Zoppi T, Cennini L, Ceccarelli A, Bondavalli A.   +4 more
europepmc   +1 more source

Improving Machine Learning Classification Predictions through SHAP and Features Analysis Interpretation. [PDF]

J Chem Inf Model
Bernal L, Rastelli G, Pinzi L.
europepmc   +1 more source

Simulated depression risk classification from Parkinson's voice features using a self-attention-enhanced MLP architecture. [PDF]

Sci Rep
Arasavali N, Ashik M, Nirmal V, Kumar MV, Siddaraj U.   +4 more
europepmc   +1 more source

Numerical Interpretation of Variation Indices of Tumor Outline Tracking Using Artificial Intelligence Mapping. [PDF]

Biomed Eng Comput Biol
Mortazavy Beni H.
europepmc   +1 more source