Interpretable prioritization of splice variants in diagnostic next-generation sequencing
A critical challenge in genetic diagnostics is the computational assessment of candidate
splice variants, specifically the interpretation of nucleotide changes located outside of the …
splice variants, specifically the interpretation of nucleotide changes located outside of the …
MD–ligand–receptor: a high-performance computing tool for characterizing ligand–receptor binding interactions in molecular dynamics trajectories
Molecular dynamics simulation is a widely employed computational technique for studying
the dynamic behavior of molecular systems over time. By simulating macromolecular …
the dynamic behavior of molecular systems over time. By simulating macromolecular …
The regulatory mendelian mutation score for GRCh38
Background Genome sequencing efforts for individuals with rare Mendelian disease have
increased the research focus on the noncoding genome and the clinical need for methods …
increased the research focus on the noncoding genome and the clinical need for methods …
Boosting tissue-specific prediction of active cis-regulatory regions through deep learning and Bayesian optimization techniques
Abstract Background Cis-regulatory regions (CRRs) are non-coding regions of the DNA that
fine control the spatio-temporal pattern of transcription; they are involved in a wide range of …
fine control the spatio-temporal pattern of transcription; they are involved in a wide range of …
[HTML][HTML] Risk factor analysis of cryopreserved autologous bone flap resorption in adult patients undergoing cranioplasty with volumetry measurement using …
Y Son, J Chung - Journal of Korean Neurosurgical Society, 2024 - synapse.koreamed.org
Objective Decompressive craniectomy (DC) with duroplasty is one of the common surgical
treatments for life-threatening increased intracranial pressure (ICP). Once ICP is controlled …
treatments for life-threatening increased intracranial pressure (ICP). Once ICP is controlled …
Molecular Dynamics Investigations of Human DNA-Topoisomerase I Interacting with Novel Dewar Valence Photo-Adducts: Insights into Inhibitory Activity
Chronic exposure to ultraviolet (UV) radiation is known to induce the formation of DNA photo-
adducts, including cyclobutane pyrimidine dimers (CPDs) and Dewar valence derivatives …
adducts, including cyclobutane pyrimidine dimers (CPDs) and Dewar valence derivatives …
Is Fetal-Type Posterior Cerebral Artery a Risk Factor for Recurrence in Coiled Internal Carotid Artery–Incorporating Posterior Communicating Artery Aneurysms …
J Chung, JH Cheong, JM Kim, DH Lee, HJ Yi… - …, 2022 - journals.lww.com
BACKGROUND: The fetal-type posterior cerebral artery (FPCA) has been regarded as the
risk factor for recurrence in coiled internal carotid artery–incorporating posterior …
risk factor for recurrence in coiled internal carotid artery–incorporating posterior …
Degree-Normalization Improves Random-Walk-Based Embedding Accuracy in PPI Graphs
L Cappelletti, S Taverni, T Fontana… - … Work-Conference on …, 2023 - Springer
Among the many proposed solutions in graph embedding, traditional random walk-based
embedding methods have shown their promise in several fields. However, when the graph …
embedding methods have shown their promise in several fields. However, when the graph …
ParSMURF-NG: A Machine Learning High Performance Computing System for the Analysis of Imbalanced Big Omics Data
In the context of Genomic and Precision Medicine, prediction problems are often
characterized by a high imbalance between classes and Big Data. This requires specialized …
characterized by a high imbalance between classes and Big Data. This requires specialized …
The Regulatory Mendelian Mutation score for GRCh38
Motivation Various genome sequencing efforts for individuals with rare Mendelian disease
have increased the research focus on the non-coding genome and the clinical need for …
have increased the research focus on the non-coding genome and the clinical need for …