Determining the value of genomics in healthcare
Stark, Z. et al. Integrating genomics into healthcare: a global responsibility. Am. J. Hum. Genet 104, 13–20 (2019).…
Proteome-wide model for human disease genetics
Statistics and reproducibility This study is based on analysis of large-scale sequencing and variant annotation datasets (UniRef58, UKBB17,…
Adenine DNA methylation associated with transcriptionally permissive chromatin is widespread across eukaryotes
Iyer, L. M., Abhiman, S. & Aravind, L. Natural History of Eukaryotic DNA Methylation Systems, Vol. 101 (Elsevier,…
Genome-wide association analyses identify distinct genetic architectures for early-onset and late-onset depression
Study population To conduct a large GWAS of AAO-based MDD subtypes with consistent phenotypes, we identified nine cohorts…
Multimodal learning enables chat-based exploration of single-cell data
Multimodal training data of paired transcriptomes and text To establish a large training dataset of transcriptomes and their…
Reporting guidelines for studies involving generative artificial intelligence applications: what do I use, and when?
The rise in publications addressing the use of general artificial intelligence (GAI), namely large language models (LLMs), for…
Epigenetically driven and early immune evasion in colorectal cancer evolution
Sample collection and sequencing Our FF–WGS samples were comprised of processed data from previous sequencing experiments of our…
Cell-type- and locus-specific epigenetic editing of memory expression
All animals and procedures used in this study were approved by the Veterinary Office of the Federal Council…
The MyCancerGene study: a hybrid type 1 effectiveness-implementation randomized study comparing a patient-centered digital genetic health portal to usual care after receipt of cancer genetic testing | BMC Cancer
Robson ME, Storm CD, Weitzel J, Wollins DS, Offit K. American society of clinical oncology policy statement update:…
Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function
Institute of Medical Genetics, University of Zurich, Zurich, Switzerland Reza Asadollahi, Paranchai Boonsawat, Dennis Kraemer & Anita Rauch Faculty of Engineering and…
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…
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…