Global patterns of intraspecific genetic diversity are key to understanding evolutionary and ecological processes. However, insights into the distribution and drivers of genetic diversity remain limited, particularly for marine species. Here, we expl...
Journal of thrombosis and haemostasis : JTH
39798926
Artificial intelligence (AI) is rapidly advancing our ability to identify and interpret genetic variants associated with coagulation factor deficiencies. This review introduces AI, with a specific focus on machine learning (ML) methods, and examines ...
Hepatitis C virus infection is a significant global health concern, affecting millions worldwide. Although direct-acting antivirals achieve over 90% success rate, treatment failures still occur, particularly when pan-genotypic DAAs are unavailable, a...
In post-genome-wide association study era, interpretation of noncoding variants remains a significant challenge due to their complexity and the limited understanding of their functions. Here, we developed MIRACN, a novel residual convolutional neural...
Accurate prediction of pathogenic variants in human disease-associated genes would have a profound effect on clinical decision-making; however, it remains a significant challenge due to the overwhelming number of these variants. We propose graph neur...
The digenic inheritance hypothesis holds the potential to enhance diagnostic yield in rare diseases. Computational approaches capable of accurately interpreting and prioritizing digenic combinations of variants based on the proband's phenotypes and f...
() antibiotic resistance poses a global health threat. Accurate identification of antibiotic resistant strains is essential for the control of infection. In the present study, our goal is to leverage the whole-genome data of to develop practical an...
BACKGROUND: Genome-wide association studies (GWAS) are rapidly advancing due to the improved resolution and completeness provided by Telomere-to-Telomere (T2T) and pangenome assemblies. While recent advancements in GWAS methods have primarily focused...
BACKGROUND: A significant challenge in precision medicine is confidently identifying mutations detected in sequencing processes that play roles in disease treatment or diagnosis. Furthermore, the lack of representativeness of single nucleotide varian...
Understanding how genetic variation impacts transcription factor (TF) binding remains a major challenge, limiting our ability to model disease-associated variants. Here, we used a highly controlled system of F crosses with extensive genetic diversity...