Genetics

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

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Mechanistic Genome Folding at Scale through the Differentiable Loop Extrusion Model

The spatial folding of the genome shapes gene regulation by controlling which loci interact, yet inf...

Pretrained protein language models choose between sequence novelty and structural completeness

Protein language models (PLMs) have gained increasing acceptance in tasks ranging from variant effec...

Enhancer-AAVs allow genetic access to oligodendrocytes and diverse populations of astrocytes across species

Proper brain function requires the assembly and function of diverse populations of neurons and glia....

Machine learning-based definition of cellular senescence reveals pro-senescence potential implication in lung adenocarcinoma

Despite growing evidence implicating cellular senescence in tumor progression, methodological challe...

A Convolutional Deep Learning Approach to identify DNA Sequences for Gene Prediction

In this work, we present a highly efficient machine learning method for identifying DNA sequences th...

CellDiffusion: a generative model to annotate single-cell and spatial RNA-seq using bulk references

Annotating single-cell and spatial RNA-seq data can be greatly enhanced by leveraging bulk RNA-seq, ...

Mechanical stretch disrupts calcium dynamics and redistributes Piezo1 in human astrocytes

Astrocytes regulate the activity of nearby neurons so disruption of astrocyte calcium dynamics by tr...

Temporal Expression Prediction by Integrating Genome Dynamics via Spatio-temporal GNNs

Temporal gene expression is being analyzed via high-throughput profiling of molecular data over time...

Evaluation of computational tools for predicting CRISPR gRNA on-target efficiency in plants

CRISPR technologies has become an integral part of plant biotechnology, synthetic biology and basic ...

FveOCRs - a database for open chromatin prediction in wild strawberry based on a large language model

Woodland strawberry (Fragaria vesca) is a widely used model system for cultivated strawberries and R...

Self-supervised learning enables robust microbiome predictions in data-limited and cross-cohort settings

The gut microbiome plays a crucial role in human health, but machine learning applications in this f...

Adaptive disorder as the hallmark of nanobodies antigen-binding loops

Nanobodies are antigen-binding proteins of great interest as diagnostics and therapeutics. Accurate ...

omicML: An Integrative Bioinformatics and Machine Learning Framework for Transcriptomic Biomarker Identification

Transcriptomic biomarker discovery has been a challenge due to variation in datasets and platforms, ...

Positional frequency chaos game representation for machine learning-based classification of crop lncRNAs

Alignment-based methods are fundamental for sequence comparison but are often computationally prohib...

FlashRNA: An Efficient Model for Regulatory Genomics

Transformer-based genomic sequence-to-function models effectively capture long-range genomic interac...

CardioWAS Pathway-Based RNA-Seq and Genome Integration Platform for CVD Omics-Wide Associations

The integration of transcriptomic and genomic data is essential for dissecting the molecular basis o...

A comprehensive functional landscape of α-tubulin TUBA1A variants illuminates microtubule biology and refines clinical classification

Missense variant interpretation in highly conserved, paralog-rich gene families remains a critical b...

Base-editing a single missense mutation in A20 enhances CAR-T cell efficacy

T cell exhaustion limits the efficacy of cancer immunotherapies. Here, we performed genome-wide loss...

High-accuracy SNV calling for bacterial isolates using deep learning with AccuSNV

Accurate detection of mutations within bacterial species is critical for fundamental studies of micr...

DeepEmbCas9: Cas9 coevolution and sgRNA structural information for CRISPR-Cas9 cleavage activity prediction

The development of CRISPR-Cas9 cleavage activity prediction tools hinges on data produced from high-...

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