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…
Large-scale visualization of α-synuclein oligomers in Parkinson’s disease brain tissue
Autofluorescence suppression and high-sensitivity microscopy reveals nanoscale assemblies in human brain tissue An overview of the ASA–PD pipeline…
Limited overlap between genetic effects on disease susceptibility and disease survival
Ethics statement This study was conducted in compliance with the relevant ethical guidelines and approved by the appropriate…
A centenarian single nucleotide polymorphism in collagen gene COL25A1 promotes longevity in C. elegans
Introduction of centenarian COL25A1 SNP in C. elegans ortholog col-99 In 2001, Puca and colleagues performed a linkage…
A clinical milestone for CRISPR in sickle-cell disease
The haemoglobinopathies transfusion-dependent β-thalassemia (TDT) and sickle-cell disease (SCD) are two globally prevalent and severe monogenic blood disorders.…
Advances in haplotype phasing and genotype imputation
Voight, B. F., Kudaravalli, S., Wen, X. & Pritchard, J. K. A map of recent positive selection in…
Breeder turnover creates allelic variation in groups of gray wolves
Adams JR, Waits LP (2007) An efficient method for screening faecal DNA genotypes and detecting new individuals and…
Rapid epigenomic classification of acute leukemia
A comprehensive DNA methylation reference of acute leukemia We curated a comprehensive DNA methylation-based reference cohort from published…
Further phenotypical delineation of DLG3-related neurodevelopmental disorders
Elias GM, Elias LAB, Apostolides PF, Kriegstein AR, Nicoll RA. Differential trafficking of AMPA and NMDA receptors by…
A genomic view of Earth’s biomes
Giovannoni, S., Britschgi, T., Moyer, C. & Field, K. Genetic diversity in Sargasso sea bacterioplankton. Nature 345, 60–63…