Genetics

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

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Cell-free DNA methylome and fragmentome analysis for disease relapse monitoring in patients with Ewing Sarcoma

Liquid biopsies and cell-free DNA (cfDNA) offer minimally invasive methods for the diagnosis and mon...

A Novel Multi-Omics Deep Learning Framework for Spatiotemporal Cerebral Cortex Localization & Expression

Accurately mapping and predicting amino acid localization and gene expression patterns in the dorsol...

Towards a diagnostic test for sporadic ALS utilising deep learning and SNP microarrays

A variety of common and rare genetic factors have been implicated in the development of amyotrophic ...

Deciphering epistatic genetic regulation of cardiac hypertrophy

Although genetic variant effects often interact non-additively, strategies to uncover epistasis rema...

Federated Learning for the pathogenicity annotation of genetic variants in multi-site clinical settings

Rare diseases collectively affect 5% of the population. However, fewer than 50% of rare disease pati...

Cross-Disorder Machine Learning Uncovers Schizophrenia Risk Variants Predictive of Alzheimer’s Disease

Alzheimer’s disease (AD) and Schizophrenia (SCZ) exhibit overlapping clinical features and biologica...

From Text to Translation: Using Language Models to Prioritize Variants for Clinical Review

Despite rapid advances in genomic sequencing, most rare genetic variants remain insufficiently chara...

Genotyping TOMM40’523 Poly-T Polymorphisms Using Whole-Genome Sequencing

The TOMM40’523 poly-T repeat polymorphism (rs10524523), located in the TOMM40 gene and in linkage di...

DoBSeqWF: A framework for sensitive detection of individual genetic variation in pooled sequencing data

Population screening for rare genetic diseases is limited by the high cost of next- generation seque...

Plasma Cell-Free RNA Captures Immune Dynamics and Predicts GVHD after Hematopoietic Stem Cell Transplantation

Despite long-standing success of hematopoietic stem cell transplantation (HSCT) in the treatment of ...

Integration of MRI radiomics and germline genetics to predict the IDH mutation status of gliomas

The molecular profiling of gliomas for isocitrate dehydrogenase (IDH) mutations currently relies on ...

Brain Age Prediction in Type II GM1 Gangliosidosis

GM1 gangliosidosis is an inherited, progressive, and fatal neurodegenerative lysosomal storage disor...

Multimodal deep learning enhances genomic risk prediction for cardiometabolic diseases in UK Biobank

Cardiometabolic diseases are multifactorial disorders influenced by numerous genetic variants and th...

Integrating a host transcriptomic biomarker with a large language model for diagnosis of lower respiratory tract infection

Lower respiratory tract infections (LRTIs) are a leading cause of mortality worldwide and can be dif...

Epigenetic signatures of regional tau pathology and cognition in the aging and pathological brain

Primary age-related tauopathy (PART) and Alzheimer’s disease (AD) share hippocampal phospho-tau (p-t...

VADEr: Vision Transformer-Inspired Framework for Polygenic Risk Reveals Underlying Genetic Heterogeneity in Prostate Cancer

Polygenic risk scores (PRSs) serve as quantitative metrics of genetic liability for various conditio...

Using Artificial Intelligence (AI) to Model Clinical Variant Reporting for Next Generation Sequencing (NGS) Oncology Assays

Targeted next generation sequencing (NGS) of somatic DNA is now routinely used for diagnostic and pr...

Predicting Bacterial Vaginosis Development using Artificial Neural Networks

Bacterial vaginosis (BV) is a dysbiosis of the vaginal microbiome, characterized by the depletion of...

Deep Learning on Histopathological Images to Predict Breast Cancer Recurrence Risk and Chemotherapy Benefit

Genomic testing has transformed treatment decisions for hormone receptor-positive, HER2-negative (HR...

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