Connor Hill, Alexandra Indeglia ... Alessandro Gardini
Molecular profiling with omics approaches reveals the resemblance between neuroendocrine malignancies and solitary fibrous tumors, rare soft tissue cancers with no effective treatment options.
Clinical, genetic, and model organism data collectively define PLCG1 as a disease-associated gene with diverse missense variants contributing to phenotypic heterogeneity.
The unbiased genetic screening and animal model experiments have characterized a new candidate pathogenic gene associated with high myopia, providing a potential therapeutic intervention target for controlling the disease.
Bing Guo, Shannon Takala-Harrison, Timothy D O'Connor
hmmIBD outperforms alternative tools in detecting genome segments that are identical-by-descent and uncovering signals of positive selection and demographic history in malaria parasite genomes, underscoring the importance of tool prioritization and optimization for reliable malaria genomic surveillance.