Genetics

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

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iTARGET: Interpretable Tailored Age Regression for Grouped Epigenetic Traits

Accurately predicting chronological age from DNA methylation patterns is crucial for advancing biological age estimation. However, this task is made challenging by Epigenetic Correlation Drift (ECD) and Heterogeneity Among CpGs (HAC), which reflect the dynamic relationship between methylation and age across different life stages. To address these issues, we propose a novel two-phase algorithm. T...

METAGENE-1: Metagenomic Foundation Model for Pandemic Monitoring

We pretrain METAGENE-1, a 7-billion-parameter autoregressive transformer model, which we refer to as a metagenomic foundation model, on a novel corpus of diverse metagenomic DNA and RNA sequences comprising over 1.5 trillion base pairs. This dataset is sourced from a large collection of human wastewater samples, processed and sequenced using deep metagenomic (next-generation) sequencing methods....

Knowledge-Guided Biomarker Identification for Label-Free Single-Cell RNA-Seq Data: A Reinforcement Learning Perspective

Gene panel selection aims to identify the most informative genomic biomarkers in label-free genomic datasets. Traditional approaches, which rely on ...

Deep Learning-Based SD-OCT Layer Segmentation Quantifies Outer Retina Changes in Patients With Biallelic RPE65 Mutations Undergoing Gene Therapy.

PURPOSE: To quantify outer retina structural changes and define novel biomarkers of inherited retinal degeneration associated with biallelic mutations...

Jan 2 2025 39745677
Accurate prediction of gene deletion phenotypes with Flux Cone Learning

Predicting the impact of gene deletions is crucial for biological discovery, biomedicine, and biotechnology. For example, identifying lethal deletions...

Marker-independent imaging reveals a correlation of fibrotic and epigenetic alterations in endometriosis

Endometriosis describes the presence of endometrial glands outside of the uterus and can cause various symptoms such as chronic pelvic pain, hypermeno...

RNAGenesis: A Generalist Foundation Model for Functional RNA Therapeutics

RNA molecules are central to gene regulation, catalysis, and molecular recognition, and offer broad opportunities for therapeutic applications. Howeve...

Fluctuation structure predicts genome-wide perturbation outcomes

Pooled single-cell perturbation screens represent powerful experimental platforms for functional genomics, yet interpreting these rich datasets for me...

GARN3: A coarse-grained helix centered technique for RNA 3D structures prediction

The study of the prediction of three-dimensional structures of RNA (ribonucleic acids) has been increasing over the last decades, especially with adva...

ODFormer: a Virtual Organoid for Predicting Personalized Therapeutic Responses in Pancreatic Cancer

Pancreatic cancer (PC) patient-derived organoids (PDOs) faithfully recapitulate therapeutic responses but face clinical translation barriers, includin...

Nanopore- and AI-empowered microbial viability inference

The ability to differentiate between viable and dead microorganisms in metagenomic data is crucial for various microbial inferences, ranging from asse...

EPEPDI: prediction of binding free energy changes from missense mutations in double and single-stranded DNA-binding proteins

Predicting changes in binding free energy due to missense mutations (MMs) in protein-DNA interactions (PDIs) is vital for understanding disease mechan...

Directing cellular transitions on gene graph-enhanced cell state manifold

A select few genes act as pivotal drivers in the process of cell state transitions. However, finding key genes involved in different transitions is ch...

Prediction and functional interpretation of inter-chromosomal genome architecture from DNA sequence with TwinC

Three-dimensional nuclear DNA architecture comprises well-studied intra-chromosomal (cis) folding and less characterized inter-chromosomal (trans) int...

Exploring the genetic landscape of ciprofloxacin-induced DNA supercompaction in Escherichia coli

DNA-damaging antibiotics like ciprofloxacin induce extensive double-strand breaks in Escherichia coli, triggering the SOS response and leading to DNA ...

f-BGM enables fungi-specific genome mining in high accuracy and interpretability

Emerging artificial intelligence (AI)-based genome mining methods have revolutionized the paradigm of bacterial secondary metabolite (SM) discovery. F...

smDeepFLUOR: Single-Molecule Deep Learning Fluorescence Classification

Fluorescence intensity variation has long served as a primary readout for monitoring biological events. However, single-fluorophore signals arising fr...

GLM-Prior: a nucleotide transformer model reveals prior knowledge as the driver of GRN inference performance

Gene regulatory network inference depends on high-quality prior-knowledge, yet curated priors are often incomplete or unavailable across species and c...

Human whole epigenome modelling for clinical applications with Pleiades

Gene regulation in humans extends beyond the four letter genetic code. Cytosine methylation, in particular, functions as a critical epigenetic switchb...

Fully functional AAV viral vectors with highly altered structural cores and subunit interfaces using ProteinMPNN

Adeno-associated viruses (AAV) have emerged as a viable vector for gene therapy, with several clinical approvals and a growing pipeline in clinical tr...

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