Genetics

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

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From sequence to signature: Machine learning uncovers multiscale feature landscapes that predict AMR across ESKAPE pathogens

Since the clinical introduction of antibiotics in the 1940s, antimicrobial resistance (AMR) has beco...

IRIS: A Machine Learning-Based Pose Re-Ranking Tool for RNA-Ligand Docking

RNA-ligand docking remains challenging, due in part to intrinsic properties of RNA such as structura...

Performance and limitations of out-of-distribution detection for insect DNA (meta)barcoding

Successful applications of DNA barcoding/metabarcoding rely on the accurate taxonomic identification...

Venus-MAXWELL: Efficient Learning of Protein-Mutation Stability Landscapes using Protein Language Models

In-silico prediction of protein mutant stability, measured by the difference in Gibbs free energy ch...

GREmLN: A Cellular Graph Structure Aware Transcriptomics Foundation Model

The ever-increasing availability of large-scale single-cell profiles presents an opportunity to deve...

Learning the DNA syntax of human microbiomes to infer health and disease

The human microbiome is a key factor in human health and alterations in community structure are asso...

Controlling Payload Heterogeneity in Lipid Nanoparticles for RNA-Based Therapeutics

Lipid nanoparticles (LNPs) are a leading platform for nucleic acid delivery, yet conventional assemb...

Multi-modal data integration for machine learning applications

The integration of multi-modal genomic data, encompassing sequences, annotations, and coverage track...

Predicting pyrazinamide resistance in Mycobacterium tuberculosis using a graph convolutional network

Pyrazinamide is an important first-line antibiotic for treating tuberculosis and resistance is prima...

DeepSpot2Cell: Predicting Virtual Single-Cell Spatial Transcriptomics from H&E images using Spot-Level Supervision

Spot-based spatial transcriptomics (ST) technologies like 10x Visium quantify genome-wide gene expre...

RNAtive to recognize native-like structure in a set of RNA 3D models

Most widely used methods for evaluating RNA 3D structure models require experimental reference struc...

The mechanical code of DNA impacts its interaction with DNA gyrase

DNA:protein interactions involving large structural deformations of DNA underpin essential biologica...

Spatially varying cell-specific gene regulation network inference

Gene regulatory networks (GRNs), involving interactions between large numbers of genes, govern expre...

Cancer target discovery enabled by transcriptome-based virtual CRISPR screening

Functional genetic screens have uncovered dependencies in many cancers, but experimentally screened ...

Systematic Review of Over A Century of Global Bioscience Research

Bioscience encompasses studies on living organisms, their components, and their interactions, with t...

Towards a universal foundation model for biobank-scale human genome variation

Millions of human genomes have been genotyped by national biobanks worldwide. Training large languag...

A structure and function-based complete mutational map of Human Hemoglobin using AI

Hemoglobin (Hb), a well-characterized protein central to oxygen transport and molecular medicine, se...

Gradient-aware modeling advances AI-driven prediction of genetic perturbation effects

Predicting the transcriptional effects of genetic perturbations across diverse contexts is a central...

CNValidatron: Accurate And Efficient Validation of PennCNV Calls Using Computer Vision

Large rare copy number variants (CNVs) are a main source of genetic variation in the genome and are ...

Multiplex design and discovery of proximity handles for programmable proteome editing

Although we now have a rich toolset for genome editing, an equivalent framework for manipulating the...

An integrated multi-tissue atlas of epigenomic landscapes and regulatory elements in the bovine genome

Deciphering the regulatory syntax of the genome is essential to understand the genetic and molecular...

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