期刊： NATURE GENETICS, 2022; 54 (7)
More than 800 million people suffer from kidney disease, yet the mechanism of kidney dysfunction is poorly understood. In the present study, we define......
期刊： NATURE GENETICS, 2022; 54 (9)
We explored human induced pluripotent stem cells (hiPSCs) derived from different tissues to gain insights into genomic integrity at single-nucleotide ......
期刊： NATURE GENETICS, 2022; 54 (9)
Some individuals with autism spectrum disorder (ASD) carry functional mutations rarely observed in the general population. We explored the genes disru......
期刊： NATURE GENETICS, 2022; 54 (10)
scDRS associates individual cells in scRNA-seq with disease by scoring single-cell transcriptomes using GWAS gene signatures. Applied to 74 GWAS and 1......
期刊： NATURE GENETICS, 2022; 54 (10)
KCNK3 mutations identified in sleep apnea probands affect TASK-1 X-gate function. These changes lead to an increase in potassium current and open prob......
期刊： NATURE GENETICS, 2022; 54 (10)
Epigenomic maps identify gene regulatory elements by their chromatin state. However, prevailing short-read sequencing methods cannot effectively disti......
期刊： NATURE GENETICS, 2022; 54 (11)
Genome sequencing and analysis of public epigenomic data enabled the identification of disease-causing variants in a non-coding regulatory region of h......
期刊： NATURE GENETICS, 2022; 54 (3)
Cardiometabolic diseases are the leading cause of death worldwide. Despite a known genetic component, our understanding of these diseases remains inco......
期刊： NATURE GENETICS, 2022; 54 (4)
Genomic surveillance has shaped our understanding of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) variants. We performed a global land......
期刊： NATURE GENETICS, 2022; 54 (5)
Imaging mass cytometry profiling of 693 breast tumors identified 10 recurrent tumor microenvironment spatial structures. These structures were enriche......
期刊： NATURE GENETICS, 2022; 54 (5)
Joint analysis of 11 major psychiatric disorders identifies four broad factor underlying genetic correlations among the disorders. Association analyse......
期刊： NATURE GENETICS, 2022; 54 (5)
Most genes in photosynthetic organisms remain functionally uncharacterized. Here, using a barcoded mutant library of the model eukaryotic alga Chlamyd......
期刊： NATURE GENETICS, 2022; 54 (5)
Enhancer sequences control gene expression and comprise binding sites (motifs) for different transcription factors (TFs). Despite extensive genetic an......
期刊： NATURE GENETICS, 2022; 54 (6)
The mechanisms by which the fetal-type beta-globin-like genes HBG1 and HBG2 are silenced in adult erythroid precursor cells remain a fundamental quest......
