Genetics

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

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A novel deep learning-based framework reveals a continuum of chromatin sensitivities across transcription factors

The genome-wide binding of many transcription factors (TFs) depends not only on the presence of their recognition motifs, but also on the surrounding chromatin context. This raises the question of how binding specificity is achieved, which is essential for the proper activation of regulatory regions during developmental and differentiation processes. Two competing hypotheses have been proposed: ei...

Generanno: A Genomic Foundation Model for Metagenomic Annotation

The rapid growth of genomic and metagenomic data has underscored the pressing need for advanced computational tools capable of deciphering complex biological sequences. In this study, we introduce Generanno, a compact yet powerful genomic foundation model (GFM) specifically optimized for metagenomic annotation. Trained on an extensive dataset comprising 715 billion base pairs (bp) of prokaryotic D...

ProteomeLM: A proteome-scale language model allowing fast prediction of protein-protein interactions and gene essentiality across taxa

Language models starting from biological sequence data are advancing many inference problems, both at the scale of single proteins, and at the scale o...

A transformer-based language model reveals developmental constraint and network complexity during zebrafish embryogenesis

Understanding how regulatory complexity and constraint shape organismal development remains a central challenge in biology. The developmental hourglas...

Leaping over the blood-brain barrier: DNA methylation as a link between peripheral and central immune systems

The majority of existing DNA methylation (DNAm) studies have used peripheral surrogate tissues to research molecular mechanisms underlying brain-relat...

Detection of alternative splicing: deep sequencing or deep learning?

Alternative splicing (AS) is a central mechanism of gene regulation that enables condition- and tissue-specific expression of gene isoforms. Its dysre...

DNA Sequence Trace Reconstruction Using Deep Learning

Deciphering DNA sequences is fundamental to unlocking the mysteries of life, but the high dimensionality and complexity of biological sequence data si...

ESPWA: a deep learning-enabled tool for precision-based use of endocrine therapy in resource-limited settings

Cancer morbidity disproportionately affects patients in low- and middle-income countries (LMICs), where timely and accurate tumor profiling is often n...

A Computational Pipeline for Physiologically Informed Calibration of Ligand Reaction-Diffusion Models Using High-Throughput Sequencing

All physiological processes fundamentally rely on continuous cellular cross-talk to maintain organization and ensure proper function. Among the variou...

ChatMDV: Democratising Bioinformatics Analysis Using Large Language Models

The rapid advancement in single-cell, spatial omics, imaging, and genomic technologies requires robust analytical and visualisation platforms capable ...

A fully-open structure-guided RNA foundation model for robust structural and functional inference

RNA language models have achieved strong performances across diverse down-stream tasks by leveraging large-scale sequence data. However, RNA function ...

DeepRES: Deep learning enables reaction-based comprehensive enzyme screening

Enzymes accelerate biochemical reactions in living organisms, thus playing an important role in metabolism. Although metabolic pathway databases are g...

PAM adenine methylation and flanking sequence regulate SaCas9 activity in bacteria

Cas9 nucleases are the effectors of the class 2 type II CRISPR system in bacteria and function to restrict invading DNA. They can also be used with si...

BRAVE: a highly accurate method for predicting HIV-1 antibody resistance using large language models for proteins

Broadly neutralizing antibodies (bNAbs) that target the envelope glycoprotein (Env) of human immunodeficiency virus-1 (HIV-1) have been utilized in cl...

Machine Learning–Guided Structure–Activity Discovery of Polymer Configurations in Lipid Nanoparticles for Kiss-and-Run Endosomal Escape

Endosomal escape remains a major barrier to effective nucleic acid delivery via lipid nanoparticles (LNPs). Here, we address this challenge by incorpo...

Inferences from epigenetic information in an ecological context: a case study of early-life environmental effects on DNA methylation in zebra finches

DNA methylation (DNAm) plays a key role in mediating phenotypic responses to environmental variation. Various approaches exist to link DNAm variation ...

Uncovering Developmental Lineages from Single-cell Data with Contrastive Poincaré Maps

Single-cell RNA-sequencing (scRNA-seq) enables the study of hierarchical and branching patterns in organismic development at high resolution. Analyzin...

The role of active mRNA-ribosome dynamics and closing constriction in daughter chromosome separation in Escherichia coli

The mechanisms by which two sister chromosomes separate and partition into daughter cells in bacteria remain poorly understood. A recent theoretical m...

ROSMAP-Compass: a data-harmonised, AI-ready atlas of 22 million single nuclei from the ROSMAP cohort

The Religious Orders Study and Memory and Aging Project (ROSMAP) cohort has generated the world’s most comprehensive single-cell transcriptomic resour...

Deep learning-based image quantification of epithelial cell shapes and its application to polycystic kidney disease

Cell shape is a fundamental determinant of tissue architecture and organ function. In epithelial tissues, cytoskeletal organization and tight junction...

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