Latest AI and machine learning research in genetics for healthcare professionals.
Leishmaniasis and toxoplasmosis are major neglected zoonotic diseases affecting billions globally, with diverse clinical outcomes driven by complex host-pathogen immunogenomic interactions. While the One Health framework is theoretically essential for controlling these environmentally sensitive pathogens, the extent of its actual integration into high-throughput genomic research remains unquantifi...
Genetically determined developmental disorders (GDD) are rare, heterogeneous conditions for which clinical diagnosis increasingly depends on genomic variant prioritisation and rapid synthesis of genotype–phenotype evidence scattered across the literature. Manual curation of this evidence is labour-intensive, difficult to scale and to keep up to date. We present a domain-wide, automated pipeline th...
Accurate molecular profiling and prognostication from routine histopathology slides could transform precision oncology. We developed a Vision Transfor...
Large language models (LLMs) are increasingly used in randomized clinical trial (RCT) screening, but their potential for sociodemographic bias remains...
Which mechanisms of action and candidate drugs can be used to treat endometrial failure caused by molecular alterations rather than endometrial timing...
We report an exponential rise in dermatophyte infections belonging to the Trichophyton interdigitale/mentagrophytes species complex (TiTmSC), includin...
Lower respiratory tract infection (LRTI) is a leading cause of morbidity and mortality among children admitted to paediatric intensive care units (PIC...
As a cornerstone technique in molecular diagnostics, melting curve analysis (MCA) enables cost-effective multiplex detection using widely accessible f...
Immune checkpoint inhibitors have become standard care across many cancers, but most patients do not respond. Predicting response remains challenging ...
Deep learning foundation models excel at disease prediction from medical images, yet their potential to bridge tissue morphology with the genetic arch...
The genetic architecture of primary open-angle glaucoma (POAG), a leading cause of irreversible blindness, remains largely unexplained due to the reli...
Glioblastoma is a highly malignant brain tumor in which maximal safe resection is associated with improved survival, yet the oncological benefit of re...
Replication timing is a costly but powerful tool for characterizing cellular mechanisms that underlie chromatin organization, cancer epigenetics, and ...
Traditional epigenetic aging clocks are limited because they do not incorporate clinical information and functional tests, and rely on DNA samples and...
Chronic obstructive pulmonary disease (COPD) is the third leading cause of global mortality. Emerging evidence suggests the oral microbiome may contri...
Homologous recombination deficiency (HRD) confers sensitivity to poly (ADP-ribose) polymerase (PARP) inhibitors and platinum-based chemotherapy, repre...
The growing volume of biomedical literature, especially in oncology, necessitates automated tools for extracting clinically relevant information. Larg...
This study aimed to develop an artificial intelligence (AI) algorithm capable of distinguishing Alzheimer’s disease (AD) from healthy patients using g...
Early cancer detection substantially improves patient survival, yet conventional screening methods are directed at single anatomical sites and inadequ...
Peritoneal endometriosis (PE) remains challenging to diagnose, as it cannot be detected using standard imaging modalities and no clinically validated ...