UNLABELLED: Annotating genetic variants, especially non-coding variants, for the purpose of identifying pathogenic variants remains a challenge. Combined annotation-dependent depletion (CADD) is an algorithm designed to annotate both coding and non-c...
Combined Annotation Dependent Depletion (CADD) is a machine learning approach used to predict the deleteriousness of genetic variants across a genome. By integrating diverse genomic features, CADD assigns a PHRED-like rank score to each potential var...
() 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...
The association of a given human phenotype with a genetic variant remains a critical challenge in biomedical research. We present PhenoLinker, a novel graph-based system capable of associating a score to a phenotype-gene relationship by using heterog...
Proceedings of the Japan Academy. Series B, Physical and biological sciences
Jun 11, 2025
Aegilops tauschii Coss., a progenitor of bread wheat, is an important wild genetic resource for breeding. The species comprises three genetically defined lineages (TauL1, TauL2, and TauL3), each displaying valuable phenotypes in agronomic traits, inc...
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...
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...
Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder caused by mutations in the gene, typically diagnosed during early childhood and characterized by significant phenotypic heterogeneity. Despite advancements in next-generation sequencin...
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...
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