Oxford Nanopore Announces PromethION Plus Flow Cell and Human Genetics Updates at ASHG 2025
OXFORD, England, October 15, 2025–(BUSINESS WIRE)–At the American Society of Human Genetics (ASHG) 2025 industry session on 16th…
Genetic investigation of sinopulmonary diseases in Vietnam: seeking specific causes from non-specific symptoms | Orphanet Journal of Rare Diseases
O’Donnell AE. Bronchiectasis – a clinical review. N Engl J Med. 2022;387(6):533–45. Article PubMed Google Scholar Flume PA,…
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.…
A novel gene expression stability metric to unveil homeostasis and regulation | Genome Biology
K-proportion and gene homeostasis Z-Index identify regulatory genes As cells of the same type and in the same…
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…
Incorporating additive genetic effects and linkage disequilibrium information to discover gene-environment interactions using BV-LDER-GE | Genome Biology
Model overview We consider the following model to incorporate both additive and interaction effects: $${Y}_{i}={\sum }_{j=1}^{M}{G}_{ji}{\beta }_{j}+{\sum }_{j=1}^{M}{S}_{ji}{\gamma…
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…
TrueSpot: a robust automated tool for quantifying signal puncta in fluorescent imaging | Genome Biology
TrueSpot uses an automated threshold selection algorithm that utilizes multiple approaches TrueSpot accepts either a 2D image or…
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…