Genetics

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

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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, which remains a cost-effective and well-established benchmark for characterising transcriptional activity in immune cell populations. However, a major technical hurdle lies in the contrasting properties of these data types: single-cell and spatial data are inherently sparse due to its cell-level sam...

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 traumatic brain injury (TBI) could have profound consequences for neural network activity in the brain. In this study, human induced pluripotent stem cell (hiPSC)-derived astrocytes were used in a two-dimensional (2D) in vitro stretch injury model to evaluate the effect of trauma on calcium dynamics, ...

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. The expression values of genes are impacted by t...

Benchmarking generative AI tools for literature retrieval and summarization in genomic variant interpretation

Generative AI is increasingly used to extract structured information across domains, but its reliability in academic and clinical research, where prec...

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 plant research, routinely used by researchers for ...

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 Rosaceae for molecular genetic studies. Nevertheles...

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 field face significant challenges, including limite...

Adaptive disorder as the hallmark of nanobodies antigen-binding loops

Nanobodies are antigen-binding proteins of great interest as diagnostics and therapeutics. Accurate and fast characterization of their complementarity...

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, complexity in statistical and computational method...

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 prohibitive for large-scale genomic analyses. This limit...

FlashRNA: An Efficient Model for Regulatory Genomics

Transformer-based genomic sequence-to-function models effectively capture long-range genomic interactions but incur high computational costs due to th...

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 of complex cardiovascular diseases (CVD). Existing ...

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 bottleneck for precision medicine. Here, we develop...

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-of-function screening in repetitively stimulated ...

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 microbial evolution, reconstructing transmission event...

CHIMERA-DDR: A Machine Learning Framework for Classifying Heterogeneous Mismatch-Repair and Homologous-Recombination Deficiency Patterns in Prostate Cancer

Current DNA damage repair (DDR) biomarkers employ binary classifications that fail to capture the molecular complexity of tumors with concurrent repai...

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-throughput guide-target lentiviral library screens...

Natural variation in IBF1 disrupts its interaction with CHS1 and affects metabolism of hulls in rice

Secondary metabolites in plants have various physiological functions, including antioxidant and antibacterial activities. Previous studies have sugges...

Benchmarking DNA Foundation Models for Genomic and Genetic Tasks

The rapid evolution of DNA foundation models promises to revolutionize genomics, yet comprehensive evaluations are lacking. Here, we present a compreh...

The promise of AlphaFold for gene structure annotation

As sequencing technology improves, more genomes become available. Most lack annotation, automated methods are error prone, and few genomes are ever ma...

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