Frontiers

Integrative Variant Interpretation: Regulation, Epigenomics, and Disease Mechanisms

Genetic studies now identify millions of variants across human populations, yet most disease-associated signals fall outside protein-coding regions. This ...
eLife

Cytoplasmatic polyadenylation of mRNA by TENT5A is critical for enamel mineralization

This study reports an important and novel finding that TENT5A, an enzyme involved in fine-tuning poly(A) tail length on selected mRNAs, is required for proper enamel mineralization in mice. The ...
eLife

EOLA1, a novel mitochondria-localized protein critical for heart functions via regulating mitochondrial translation

Mitochondria possess their own mRNA translation system, mediated by specialized mitoribosomes. Dysregulation of mitochondrial translation disrupts metabolic homeostasis and is linked to various ...

Researchers rebuild microscopic circadian clock that can control genes

Our circadian clocks play a crucial role in our health and well-being, keeping our 24-hour biological cycles in sync with ...
GitHub

Fine-tuning sequence-to-expression models on personal genome and transcriptome data

The code base for our work on improving the performance of sequence-to-expression models for making individual-specific gene expression predictions by fine-tuning them on personal genome and ...
IEEE

Integrating Deep Learning and SHAP for Breast Cancer Classification and Biomarker Discovery Using Gene Expression Data

Abstract: This study explores the application of deep learning models combined with SHAP (SHapley Additive exPlanations) for breast cancer classification using gene expression data. Our model ...