Genetics

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

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Machine Learning Resolves Functional Phenotypes and Therapeutic Responses in KCNQ2 Developmental Epileptic Encephalopathy iPSC Models

Pathogenic KCNQ2 variants are associated with developmental and epileptic encephalopathy (KCNQ2-DEE)...

Learning sequence-function relationships with scalable, interpretable Gaussian processes

Understanding the relationship between biological sequences, such as DNA, RNA or protein sequences, ...

Pretraining Improves Prediction of Genomic Datasets Across Species

Recent studies suggest that deep neural network models trained on thousands of human genomic dataset...

Accurate detection and quantification of single-base m6A RNA modification using nanopore signals with multi-view deep learning

N6-methyladenosine (m6A) is a crucial epitranscriptomic mark. While Nanopore Direct RNA Sequencing (...

Deep Learning of Functional Perturbations from Condensate Morphology

Biomolecular condensates compartmentalize the interior of living cells to spatiotemporally organize ...

E2-Regulated Transcriptome Complexity Revealed by Long-Read Direct RNA Sequencing: From Isoform Discovery to Truncated Proteins

Estrogen receptor alpha (ERα)-positive (ER+) breast cancers are driven by 17β-estradiol (E2) binding...

CanID: a robust and accurate RNAseq Expression-based diagnostic classification scheme for pediatric malignancies

Cancer subtype classification is critical for precision therapy and there is a growing trend of augm...

Explainable machine learning-assisted exploration of chromatin dynamics reveals chromosome-specific response to serum starvation

Chromatin is dynamic at all length scales, influencing chromatin-based processes, such as gene expre...

Intra-DNA k-mer Conservation Patterns Encode Evolutionary Selection of Variants

Evolution shapes the structure and content of genomes, yet the contribution of local sequence compos...

CLM-access: A Specialized Foundation Model for High-dimensional Single-cell ATAC-seq analysis

Inspired by the success of large language models (LLMs) in natural language processing, cell languag...

Predicting flowering time using integrated morphophysiological and genomic data with machine learning models

Indigenous Cannabis Sativa populations have adapted to diverse environments, resulting in genetic an...

Integrated histopathologic modeling of detailed tumor subtypes and actionable biomarkers

Accurate cancer subtyping with accompanying molecular characterization is critical for precision onc...

SkeletAge: Transcriptomics-based Aging Clock Identifies 26 New Targets in Skeletal Muscle Aging

Identifying the set of genes that regulate baseline healthy aging – aging that is not confounded by ...

Calcium Binding Affinity in the Mutational Landscape of Troponin-C: Free Energy Calculation, Coevolution Modeling and Machine Learning

Mutation in calcium-binding proteins (CBPs) can significantly influence Ca2+ binding affinity (BA), ...

Colorectal cancer heterogeneity co-evolves with tumor architecture to determine disease outcome

Intratumoral heterogeneity, originating from genetic, epigenetic, and phenotypic cellular diversity,...

Multimodal learning decodes the global binding landscape of chromatin-associated proteins

Chromatin-associated proteins (CAPs), including over 1,600 transcription factors, bind directly or i...

CpGPT: a Foundation Model for DNA Methylation

DNA methylation is a type of epigenetic modification that plays a significant role in development, a...

CART-GPT: A T Cell-Informed AI Linguistic Framework for Interpreting Neurotoxicity and Therapeutic Outcomes in CAR-T Therapy

Chimeric antigen receptor (CAR) T cell therapy holds transformative potential for hematologic malign...

ProStab: Prediction of protein stability change upon mutations by protein language and inverse folding models

Predicting protein stability change upon mutation is critical for protein engineering, yet remains l...

AVDB: The Arab Variation and Disease Burden Database

Public genomic databases are crucial to precision medicine but often lack representation from Arab p...

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