Latest AI and machine learning research in genetics for healthcare professionals.
Early detection of hepatocellular carcinoma (HCC) is critical for improving patient outcomes, yet current screening tools lack sensitivity and specificity. We demonstrate a flexible machine learning framework for HCC detection using methylation profiles from bisulfite sequencing across multiple assay platforms and sample types. The framework supports a “split-and-filter” approach that routes each ...
The accurate duplication of the genome relies on the spatiotemporal control of DNA replication initiation, yet the determinants specifying mammalian origin locations remain elusive. By developing ORIFormer, a transformer-based neural network, we decode a complex, conserved DNA sequence grammar that accurately predicts initiation sites. This approach uncovers novel determinants, which we validate b...
The CACNA1C gene encodes the CaV1.2 L-type voltage-gated calcium channel, which plays a crucial role in neuronal signaling. CACNA1C is a risk gene for...
Cis-regulatory elements shape gene expression by recruiting transcription factors (TFs) to DNA motifs, yet how motifs cooperate or compete across dist...
Disseminated (DTCs) and circulating tumor cells (CTCs) are rare but pivotal in understanding cancer metastasis and advancing liquid biopsy-based diagn...
The regulation of mRNA decay and translation is crucial for cellular function and development; however, the complex interplay of RNA-binding proteins ...
The development of modern genome editing and DNA synthesis has enabled researchers to edit DNA sequences with high precision but has left unsolved the...
Cell biology has been booming with foundation models trained on large single-cell RNA-seq databases, but benchmarks and capabilities remain unclear. W...
Acute myeloid leukemia (AML) often enters remission after chemotherapy but frequently relapses due to chemotherapy-resistant leukemic stem cells (LSCs...
The growing number of spot-resolution sequencing based spatial transcriptomic (ST) datasets provides an unprecedented opportunity to study multicellul...
Microorganisms underpin global biogeochemical cycles and represent a vast, underexplored reservoir for sustainable biotechnology and human health. The...
Cell-free RNA (cfRNA) in human plasma provides a minimally invasive readout of tissue physiology, yet its extreme sparsity, heavy-tailed abundance dis...
Genomic prediction and design require models that integrate local sequence features with long-range regulatory dependencies spanning hundreds of kilob...
Proteostasis dysfunction is a hallmark of frontotemporal dementia (FTD) and Alzheimer’s disease (AD), yet the genetic and molecular pathways that disr...
Classification and regression are cornerstones of computational biology and science at large, from identifying cell types to stratifying patients by d...
Estrogen receptor alpha (ER) is an established oncogenic transcription factor in breast and endometrial cancer; however, more is known about the mecha...
Genomic language models (gLMs) have recently emerged as powerful numerical surrogates for DNA, but existing architectures are largely focused on human...
Structural variants (SVs) represent a major source of genetic diversity and play key roles in human disease and evolution. Yet, the extent to which lo...
Several deep learning-based tools for RNA 3D structure prediction have recently emerged, including DRfold, DeepFoldRNA, RhoFold, RoseTTAFoldNA, trRose...
The expression of antibiotic-inactivating enzymes, such as Pseudomonas-derived cephalosporinase-3 (PDC-3), is a major mechanism of intrinsic resistanc...