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).…
Dietary index for gut microbiota, genetic risk, and incidence of breast cancer: a prospective study | Breast Cancer Research
Study design and population Study design and methods of UK Biobank have been reported in detail previously [17].…
Generative artificial intelligence in medicine
Bengesi, S. et al. Advancements in generative AI: a comprehensive review of GANs, GPT, autoencoders, diffusion model, and…
CellNavi predicts genes directing cellular transitions by learning a gene graph-enhanced cell state manifold
Input embeddings In CellNavi, we use single-cell raw count matrices as the only input. Specifically, the single-cell sequencing…
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…
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…
Interplay of BMI and volumetric breast density measures and breast cancer risk for black and white women | Breast Cancer Research
We pooled data from two nested case-control studies from women ages 35 and older receiving full field digital…
Trends in breast cancer death rates from ductal carcinoma in situ versus invasive cancer in the United States | Breast Cancer Research
Data source and study participants To examine the trend in death rate from DCIS among women, we used…