Genetics

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

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EpiFoundation: A Foundation Model for Single-Cell ATAC-seq via Peak-to-Gene Alignment

Foundation models exhibit strong capabilities for downstream tasks by learning generalized representations through self-supervised pre-training on large datasets. While several foundation models have been developed for single-cell RNA-seq (scRNA-seq) data, there is still a lack of models specifically tailored for single-cell ATAC-seq (scATAC-seq), which measures epigenetic information in individua...

Predicting microbial community responses to disturbance using genome-resolved trait-based life-history strategies

Understanding how microbial communities respond to disturbance remains a fundamental question in ecology, with broad implications for biodiversity, ecosystem function, and biotechnology. Trait-based approaches offer general rules to predict community responses by linking ecological strategies to measurable traits. While life-history strategy frameworks such as the competitor–ruderal–stress-toleran...

CDCA7 facilitates MET1-mediated CG DNA methylation maintenance in centromeric heterochromatin via histone H1

DNA methylation is a conserved epigenetic modification essential for maintaining genome stability. However, how methyltransferases maintain CG methyla...

Machine learning based lineage prediction from AMR phenotypes for Escherichia coli ST131 clade C surveillance across infection types

Rising antimicrobial resistance (AMR) in Escherichia coli bloodstream infections (BSIs) in high-income settings has typically been dominated by one cl...

Iterative improvement of deep learning models using synthetic regulatory genomics

Deep learning models can accurately reconstruct genome-wide epigenetic tracks from the reference genome sequence alone. But it is unclear what predict...

Unveiling the Human Nasopharyngeal Microbiome Compendium: Systematic Characterization of Community Architecture and Function Through a Comprehensive Meta-Analysis

The nasopharyngeal microbiome acts as a dynamic interface between the human body and environmental exposures, modulating immune responses and helping ...

Capturing the Mutational Dynamics of SARS-CoV-2 with Graphs

The rapid evolution of SARS-CoV-2 presents significant challenges for modeling viral dynamics, driven by lineage diversification and region-specific m...

An AI for an AI: identifying zoonotic potential of avian influenza viruses via genomic machine learning

Avian influenza remains a serious risk to human health via zoonotic transmission, as well as a feasible pandemic threat. Although limited zoonotic cas...

Machine learning–driven decoding of maternal immune signatures in repeated pregnancy loss

Repeated pregnancy loss (RPL) is a multifactorial condition in which the underlying immunological mechanisms remain incompletely understood. Although ...

DLRNA-BERTa: A transformer approach for RNA-drug binding affinity prediction

RNA-based therapies are a rapidly expanding field, offering treatments for a wide range of diseases, including many rare conditions. To date, 24 RNA t...

vcfsim: flexible simulation of all-sites VCFs with missing data

VCFs are the most widely used data format for encoding genetic variation. By design, standard VCFs do not include data from sites where all individual...

OmicsFUSION: A Pretrained Hyena-Based Framework for Encoding, Reconstruction, and Representation of the Omics and DNA Data

Recent advances in Natural Language Processing (NLP) have spurred the application of Large Language Models (LLMs) to bioinformatics, enabling innovati...

TransStop, a genomic language model for the pan-drug prediction of translational readthrough efficacy

Premature termination codons (PTCs) are a major cause of genetic diseases, but the efficacy of therapeutic readthrough agents is highly context-depend...

Discovery of RdRp Thumb-1 as a novel broad-spectrum antiviral family of targets and MDL-001 as a potent broad-spectrum inhibitor thereof

Multiple positive-sense, single-stranded RNA (+ssRNA) viruses cause human diseases, ranging from mild colds to deadly pandemics. These viruses share a...

Identifying Optimal Machine Learning Approaches for Human Gut Microbiome (Shotgun Metagenomics) and Metabolomics Integration with Stable Feature Selection

Microbiome research has been limited by methodological inconsistencies. Taxonomy-based profiling presents challenges such as data sparsity, variable t...

PhyloAug: An Evolutionary and Structure-Aware Data Augmentation Tool *

Genomic Language Models (GLMs) suffer from the inherent problem of data scarcity, due to the cost, time and complexity of wet-lab experiments. Data au...

Predicting functional constraints across evolutionary timescales with phylogeny-informed genomic language models

Genomic language models (gLMs) have emerged as a powerful approach for learning genome-wide functional constraints directly from DNA sequences. Howeve...

Generative design of synthetic gene circuits for functional and evolutionary properties

In the past decades, a wide suite of design tools for biological systems have been developed, but using these to create biotechnologies that achieve r...

Leveraging learned representations and multitask learning for lysine methylation site discovery

Lysine methylation is a dynamic and reversible post-translational modification of proteins carried out by lysine methyltransferase enzymes. The role o...

Predicting the unseen: a diffusion-based debiasing framework for transcriptional response prediction at single-cell resolution

Predicting cellular responses to genetic perturbations is critical for advancing our understanding of gene regulation. While single-cell CRISPR pertur...

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