Spatial architecture of development and disease
Bressan, D., Battistoni, G. & Hannon, G. J. The dawn of spatial omics. Science 381, eabq4964 (2023). Article …
Limited overlap between genetic effects on disease susceptibility and disease survival
Ethics statement This study was conducted in compliance with the relevant ethical guidelines and approved by the appropriate…
Comparison of SHAP and clinician friendly explanations reveals effects on clinical decision behaviour
Introduction to the ‘pMSBOS-TS’ CDSS In our previous work, we introduced an AI algorithm named ‘precision maximum surgical…
TIMER: temporal instruction modeling and evaluation for longitudinal clinical records
Study design and data source Figure 1 summarizes the TIMER method for instruction-tuning and evaluating temporal reasoning capabilities…
Advances in haplotype phasing and genotype imputation
Voight, B. F., Kudaravalli, S., Wen, X. & Pritchard, J. K. A map of recent positive selection in…
Bryophytes hold a larger gene family space than vascular plants
Kenrick, P. & Crane, P. R. The origin and early evolution of plants on land. Nature 389, 33–39…
Reticulocalbin-1 in clear cell renal cell carcinoma: clinical and functional evidence for its role as a biomarker and potential therapeutic target | BMC Cancer
Despite therapeutic advancements, the prognosis for metastatic ccRCC remains poor, with a 5-year survival rate of approximately 12–20…
Pan-UK Biobank genome-wide association analyses enhance discovery and resolution of ancestry-enriched effects
Abul-Husn, N. S. & Kenny, E. E. Personalized medicine and the power of electronic health records. Cell 177,…
Genome-wide association meta-analysis of childhood ADHD symptoms and diagnosis identifies new loci and potential effector genes
Department of Biological Psychology, Vrije Universiteit Amsterdam, Amsterdam, the Netherlands Camiel M. van der Laan, Hill F. Ip, Jouke-Jan Hottenga, René…
Uncovering the multivariate genetic architecture of frailty with genomic structural equation modeling
Fogg, C. et al. The dynamics of frailty development and progression in older adults in primary care in…
Is enhancer-driven gene regulation all wrapped up?
Symmons, O. et al. The Shh topological domain facilitates the action of remote enhancers by reducing the effects…
Regulatory genome annotation | Nature Reviews Genetics
Gerstein, M. B. et al. Architecture of the human regulatory network derived from ENCODE data. Nature 489, 91–100…