Three-dimensional genome reorganization foreshadows zygotic genome activation in Drosophila
Drosophila stock maintenance PCNA::EGFP flies used for interphase-staged Pico-C were generously provided by S. A. Blythe and E.…
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.…
De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland Mathieu Quinodoz, Karolina Kaminska, Ana Belén Iglesias-Romero, Mukhtar…
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…
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…
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…
Natural selection exerted by historical coronavirus epidemic(s): comparative genetic analysis in China Kadoorie Biobank and UK Biobank | BMC Genomics
AppendixMethodsStatistics and reproducibility The details of each analysis are outlined in the methods section and all of the…
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…
Redefining cellular reprogramming with advanced genomic technologies
Briggs, R. & King, T. J. Transplantation of living nuclei from blastula cells into enucleated Frogs’ eggs. Proc.…