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.…
Forensic genetics in the omics era
Jeffreys, A. J., Wilson, V. & Thein, S. L. Individual-specific ‘fingerprints’ of human DNA. Nature 316, 76–79 (1985).…
Adiposity, mortality, and disease risk: insights from bioimpedance analysis and magnetic resonance imaging | BMC Medicine
Study population UKB is a prospective cohort study of over 500,000 men and women aged 40–69 years at…
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;…
KidneyGenAfrica, a pan-African partnership to deliver research and training excellence in genomics of kidney disease
Precision Healthcare University Research Institute, Queen Mary University of London, London, UK Segun Fatumo, Oyesola Ojewunmi, Rebecca Camenzuli, Christopher Kintu & Claudia Langenberg…
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 …
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…
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…
Reviewing the lines of therapy-concept in cancer treatment: a survey study among physicians | BMC Cancer
Respondents’ professional background and socio-demographics As part of the data processing, two respondents were excluded because their answers…