Modeling heterogeneity in single-cell perturbation states enhances detection of response eQTLs
Cohorts We used published data (GEO accession no. GSE162632) to study the effect of 12 h of ex vivo…
Genotyping sequence-resolved copy number variation using pangenomes reveals paralog-specific global diversity and expression divergence of duplicated genes
Overview of the genotyping method We represent variation as haplotype segments that are short enough to minimize disruption…
Association of genetic variants in m1A modification core genes and neuroblastoma risk | BMC Cancer
Park JR, Kreissman SG, London WB, Naranjo A, Cohn SL, Hogarty MD, et al. Effect of tandem autologous…
Redefining cellular reprogramming with advanced genomic technologies
Briggs, R. & King, T. J. Transplantation of living nuclei from blastula cells into enucleated Frogs’ eggs. Proc.…
Meta-analysis reveals differences in somatic alterations by genetic ancestry across common cancers
Genetic ancestry is a quantitative measure of inherited genetic variation and correlates with human migration patterns1. It contributes…
When helpfulness backfires: LLMs and the risk of false medical information due to sycophantic behavior
To evaluate language models across varying levels of drug familiarity, we used the RABBITS30 dataset, which includes 550…
Reproducibility of genetic risk factors identified for long COVID using combinatorial analysis across US and UK patient cohorts with diverse ancestries | Journal of Translational Medicine
Studies performed using traditional GWAS and meta-GWAS approaches on large patient populations (6,450 cases and 53,764 cases) respectively…
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…
Association between daily dietary intake trajectory and depressive symptom onset and transition among young adults: a longitudinal study | BMC Medicine
Baseline characteristics As shown in Table 1, we included 6447 young adults, of whom 3040 (47.2%) were female; 3407…
STI testing and diagnosis rates among patients with Mpox in 2 populous US cities, 2022 | BMC Medicine
Patient consent This study was approved by the Columbia University Irving Medical Center Institutional Review Board, with a…
Generative artificial intelligence in medicine
Bengesi, S. et al. Advancements in generative AI: a comprehensive review of GANs, GPT, autoencoders, diffusion model, and…
Changes in frailty, intensive blood pressure treatment, and risks of adverse clinical outcomes: a post hoc analysis of the SPRINT trial | BMC Medicine
Study design and population This is a post hoc analysis of the SPRINT, an open-label randomized controlled clinical…