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…
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…
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…
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…
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…
The LMSz method – an automatable scalable approach to constructing gene-specific growth charts in rare disorders
We have developed a method for producing gene-specific z-score centile charts and growth charts based on small datasets…
Genetic and molecular landscape of comorbidities in people living with HIV
Participants from the 2000HIV study The 2000HIV study is a prospective multicentric observational longitudinal cohort of virally suppressed…
Systema: a framework for evaluating genetic perturbation response prediction beyond systematic variation
Nonparametric baselines We design two nonparametric baselines that we refer to as perturbed mean and matching mean. Perturbed…