Latest AI and machine learning research in genetics for healthcare professionals.
De novo protein design has advanced rapidly in recent years, yet the programmable recognition of specific DNA sequences remains a longstanding challenge. Here we describe a deep learning based approach for designing sequence selective DNA binding proteins. Our method combines structure generation using RFdiffusion3 with explicit screening against off-target interactions using AlphaFold3. We test t...
Variants of uncertain significance (VUS) in USH2A represent a critical interpretive challenge in inherited retinal disease, with over 70% of ClinVar submissions for this gene currently unresolved. We developed UshEffect-3D, a gene-specific, structure-informed machine learning framework for USH2A missense variant classification. A dataset of 545 curated variants was assembled from ClinVar and LOVD,...
Recent perturbation atlases profile transcriptional responses to thousands of targeted perturbations in a reference cell type. Generalising these data...
Cancer survival prediction from multi-omics data remains challenging because prognostic signals are high-dimensional, heterogeneous, and distributed a...
Biological function emerges from coupled constraints across sequence, structure, regulation, evolution, and cellular context, yet most foundation mode...
Chromosome analysis is a fundamental step in the diagnosis of genetic diseases, but the manual karyotyping workflow is time-consuming and heavily depe...
DNase1L3 is an endonuclease that fragments DNA during apoptosis and digests DNA from microparticles in plasma, shaping key features of cell-free DNA (...
Chromatin organization underlies essential genome functions, but its nanoscale organization remains challenging to capture and quantify with precision...
Gliomas are aggressive primary brain tumors that necessitate critical molecular biomarker predictions for optimal clinical decision-making. Traditiona...
The molecular characterization of human solid growths has introduced immense genomic complexity and intra-tumoral diversification. Converting these de...
Background: Inappropriate normalization can lead to data leakage and overfitting in machine learning models. Accurately identifying housekeeping genes...
Deciphering the mapping between linear biomolecular sequences and complex biological functions remains a central challenge in genomics. Although exist...
Genome-wide association studies (GWAS) have cataloged thousands of disease-associated variants, yet a central challenge remains: decoding the shared, ...
Understanding how cells respond to perturbations like viral infections requires models capturing coordinated gene dynamics. However, current gene expr...
Tumor-infiltrating lymphocytes are essential for anti-tumor immunity, yet distinguishing tumor-reactive T cells from non-reactive bystander cells rema...
Generalizable protein-expression prediction can accelerate protein engineering, inform disease mechanisms, and help optimize heterologous recombinant ...
Computational predictions are essential to characterize the RNA-protein interaction landscape, yet a persistent gap between benchmark performance and ...
The transition of genomics to a predictive intelligence discipline is driven by the advent of genomic foundation models. While substantial progress ha...
Recent advances in DNA language models have mainly come from building larger and more complex architectures, making it harder to understand the effect...
Lung adenocarcinoma (LUAD), the most common subtype of non-small cell lung cancer, exhibits profound histological and molecular heterogeneity. While g...