Population-scale gene-based analysis of whole-genome sequencing provides insights into metabolic health
Ethics Our research complies with all relevant ethical regulations. All studies included in this research were approved by…
Nucleotide dependency analysis of genomic language models detects functional elements
SpeciesLM training For SpeciesLM metazoa, we obtained metazoan genomes comprising 494 different species from the Ensembl 110 database36.…
Systematic review: digital biomarkers of fatigue in chronic diseases
The search yielded 845 papers; after removing duplicates, 570 papers were screened by title and abstract. leaving 88…
The surgical effect of inferior mesenteric artery ligation level in rectal cancer and sigmoid colon cancer: a meta-analysis of randomized controlled trials | BMC Cancer
Sung H, Ferlay J, Siegel RL, Laversanne M, Soerjomataram I, Jemal A, et al. Global cancer statistics 2020:…
α-L-fucosidase isoenzymes (FUCA1/FUCA2) as prognostic markers in gliomas: a comprehensive study | BMC Cancer
Clinical samples and ethics of study Sample acquisition: (1) Glioma tissues: 30 cases (25 grade II/III, 5 GBM;…
A genetic map of human metabolism across the allele frequency spectrum
Study design The UKB is a prospective cohort study from the UK that contains more than 500,000 volunteers…
Operationalizing machine-assisted translation in healthcare
Rawal, S. et al. Association between limited English proficiency and revisits and readmissions after hospitalization for patients with…
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…