Genetics

Latest AI and machine learning research in genetics for healthcare professionals.

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Biophysical Profiling of Sickle Cell Disease Using Holographic Cytometry and Deep Learning.

Sickle cell disease (SCD) is an inherited hematological disorder associated with high mortality rates, particularly in sub-Saharan Africa. SCD arises due to the polymerization of sickle hemoglobin, which reduces flexibility of red blood cells (RBCs), causing blood vessel occlusion and leading to severe morbidity and early mortality rates if untreated. While sickle solubility tests are available to...

Jul 25 2023 37569260

A performance evaluation of drug response prediction models for individual drugs.

Drug response prediction is important to establish personalized medicine for cancer therapy. Model construction for predicting drug response (i.e., cell viability half-maximal inhibitory concentration [IC]) of an individual drug by inputting pharmacogenomics in disease models remains critical. Machine learning (ML) has been predominantly applied for prediction, despite the advent of deep learning ...

Jul 24 2023 37488424
DeepGenePrior: A deep learning model for prioritizing genes affected by copy number variants.

The genetic etiology of brain disorders is highly heterogeneous, characterized by abnormalities in the development of the central nervous system that ...

Jul 24 2023 37486921
A CT-based Deep Learning Radiomics Nomogram for the Prediction of EGFR Mutation Status in Head and Neck Squamous Cell Carcinoma.

RATIONALE AND OBJECTIVES: Accurately assessing epidermal growth factor receptor (EGFR) mutation status in head and neck squamous cell carcinoma (HNSCC...

Jul 21 2023 37481418
Mechanistic Task Groupings Enhance Multitask Deep Learning of Strain-Specific Ames Mutagenicity.

The Ames test is a gold standard mutagenicity assay that utilizes various strains with and without S9 fraction to provide insights into the mechanism...

Jul 21 2023 37478285
Gradient-mixing LEGO robots for purifying DNA origami nanostructures of multiple components by rate-zonal centrifugation.

DNA origami purification is essential for many fields, including biophysics, molecular engineering, and therapeutics. The increasing interest in DNA o...

Jul 19 2023 37467178
Deep learning exploration of single-cell and spatially resolved cancer transcriptomics to unravel tumour heterogeneity.

Tumour heterogeneity is one of the critical confounding aspects in decoding tumour growth. Malignant cells display variations in their gene transcript...

Jul 18 2023 37506451
Detecting SNP markers discriminating horse breeds by deep learning.

The assignment of an individual to the true population of origin using a low-panel of discriminant SNP markers is one of the most important applicatio...

Jul 18 2023 37464049
A Review of the Systemic Manifestations of Hepatitis B Virus Infection, Hepatitis D Virus, Hepatocellular Carcinoma, and Emerging Therapies.

Chronic hepatitis B virus (HBV) infection affects about 262 million people worldwide, leading to over 820,000 deaths each year primarily due to cirrho...

Jul 17 2023 39129946
Topological deep learning based deep mutational scanning.

High-throughput deep mutational scanning (DMS) experiments have significantly impacted protein engineering, drug discovery, immunology, cancer biology...

Jul 17 2023 37506452
Deep learning-based prediction of H3K27M alteration in diffuse midline gliomas based on whole-brain MRI.

BACKGROUND: H3K27M mutation status significantly affects the prognosis of patients with diffuse midline gliomas (DMGs), but this tumor presents a high...

Jul 17 2023 37461358
Rational design of functional amyloid fibrillar assemblies.

Amyloid fibrillar assemblies, originally identified as pathological entities in neurodegenerative diseases, have been widely adopted by various protei...

Jul 17 2023 37341718
Impact of E484Q and L452R Mutations on Structure and Binding Behavior of SARS-CoV-2 B.1.617.1 Using Deep Learning AlphaFold2, Molecular Docking and Dynamics Simulation.

During the outbreak of COVID-19, many SARS-CoV-2 variants presented key amino acid mutations that influenced their binding abilities with angiotensin-...

Jul 17 2023 37511322
Systematical analysis of underlying markers associated with Marfan syndrome via integrated bioinformatics and machine learning strategies.

Marfan syndrome (MFS) is a hereditary disease with high mortality. This study aimed to explore peripheral blood potential markers and underlying mecha...

Jul 14 2023 37449753
Comparing machine learning algorithms to predict COVID‑19 mortality using a dataset including chest computed tomography severity score data.

Since the beginning of the COVID-19 pandemic, new and non-invasive digital technologies such as artificial intelligence (AI) had been introduced for m...

Jul 13 2023 37443373
CRISPR-Cas-Based Biomonitoring for Marine Environments: Toward CRISPR RNA Design Optimization Via Deep Learning.

Almost all of Earth's oceans are now impacted by multiple anthropogenic stressors, including the spread of nonindigenous species, harmful algal blooms...

Jul 12 2023 37439822
Multi-batch single-cell comparative atlas construction by deep learning disentanglement.

Cell state atlases constructed through single-cell RNA-seq and ATAC-seq analysis are powerful tools for analyzing the effects of genetic and drug trea...

Jul 12 2023 37433791
The deep arbitrary polynomial chaos neural network or how Deep Artificial Neural Networks could benefit from data-driven homogeneous chaos theory.

Artificial Intelligence and Machine learning have been widely used in various fields of mathematical computing, physical modeling, computational scien...

Jul 10 2023 37480771
Rm-LR: A long-range-based deep learning model for predicting multiple types of RNA modifications.

Recent research has highlighted the pivotal role of RNA post-transcriptional modifications in the regulation of RNA expression and function. Accurate ...

Jul 8 2023 37515874
HydRA: Deep-learning models for predicting RNA-binding capacity from protein interaction association context and protein sequence.

RNA-binding proteins (RBPs) control RNA metabolism to orchestrate gene expression and, when dysfunctional, underlie human diseases. Proteome-wide disc...

Jul 7 2023 37421941
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