Latest AI and machine learning research in genetics for healthcare professionals.
Modeling disease effect sizes from genome-wide association studies (GWAS) is critical for both advan...
Diabetic retinopathy (DR) is a primary microvascular complication of diabetes. Its pathogenesis is a...
Leiomyosarcoma (LMS) is a rare and aggressive soft tissue sarcoma with limited treatment options and...
The incidence of early-onset colorectal cancer (EOCRC; <50 years) continues to rise, with the most r...
Neoadjuvant therapy (NAT) is an established treatment for certain high-risk, locally advanced, or un...
Cancer therapeutic response patterns may be fundamentally influenced by embryonic germ layer origin....
Despite the identification of >700 genes linked to rare and inherited kidney diseases (IKD), many in...
We previously developed the Evaluation of Autism Gene Link Evidence (EAGLE) manual curation framewor...
Cardiovascular disease (CVD) is a leading global health burden. Traditional risk prediction models, ...
High-grade gliomas (HGGs), including adult glioblastoma (GBM) and pediatric diffuse intrinsic pontin...
Fragile X Syndrome (FXS) is the most common inherited cause of intellectual disability and syndromic...
Colorectal adenocarcinoma is caused in part by widespread epigenetic deregulation, yet the analysis ...
Preterm birth is a syndrome that is triggered by diverse biological pathways and presents with many ...
Despite the rapid expansion of genomic profiling in oncology, real-world datasets remain limited in ...
Surgical pathology reports provide essential diagnostic information critical for cancer staging, tre...
Adjusting for non-genetic factors can improve genetic association testing and polygenic prediction, ...
Leishmaniasis and toxoplasmosis are major neglected zoonotic diseases affecting billions globally, w...
Genetically determined developmental disorders (GDD) are rare, heterogeneous conditions for which cl...
Accurate molecular profiling and prognostication from routine histopathology slides could transform ...
Large language models (LLMs) are increasingly used in randomized clinical trial (RCT) screening, but...
We report an exponential rise in dermatophyte infections belonging to the Trichophyton interdigitale...