Mutational scanning reveals oncogenic CTNNB1 mutations have diverse effects on signaling
CTNNB1 hotspot mutational patterns are tissue-specific We analyzed 9,248 tumors with CTNNB1 mutations in the COSMIC database (Fig.…
p53 inactivation drives breast cancer metastasis to the brain through SCD1 upregulation and increased fatty acid metabolism
Harbeck, N. et al. Breast cancer. Nat. Rev. Dis. Primers 5, 66 (2019). Article PubMed Google Scholar Chen,…
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,…
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…
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…
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.…
Dissecting the impact of transcription factor dose on cell reprogramming heterogeneity using scTF-seq
Constructing the scTF-seq library and single-cell atlas To establish scTF-seq, we built a dox-inducible lentiviral open reading frame…
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…