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A trans-ancestry meta-analysis of GWAS of glycemic traits in up to 281,416 individuals identifies 99 novel loci, of which one quarter was found due to the multi-ancestry approach, which also improves fine-mapping of credible variant sets.
Genome-wide association analyses of 41,917 bipolar disorder cases and 371,549 controls of European ancestry provide new insights into the etiology of this disorder and identify novel therapeutic leads and potential opportunities for drug repurposing.
An analysis of the UK Biobank identifies 227 new associations between mitochondrial DNA (mtDNA) variants and phenotypes. mtDNA genetic architecture reflects regional UK nuclear genome ancestry.
The insulation potency of CTCF depends on the number of binding sites in tandem and on upstream flanking sequences. Insulators form local chromatin domain boundaries and weaken enhancer–promoter contacts.
A multi-tissue atlas of alternative polyadenylation (APA) quantitative trait loci (3′aQTLs) identifies approximately 0.4 million common genetic variants associated with the APA of target genes. Approximately 16% of trait-associated variants colocalize with 3′aQTLs.
The SWI/SNF complex helps resolve R-loop-mediated transcription–replication conflicts, as depletion of SWI/SNF complex member BRG1 increases R-loops, R-loop-dependent DNA breaks and transcription–replication conflicts.
Enhancer–promoter three-dimensional interactions at oncogenic loci are modulated by H3K27ac dynamics. Enhancer hijacking mediated by chromosomal translocations leads to distinct chromatin states, intrachromosomal interactions and allele-specific gene expression.
Ultrafast Sample placement on Existing tRees (UShER) is an efficient method that facilitates the addition of new SARS-CoV-2 genome sequences onto the existing phylogeny, aiding in real-time analysis of viral evolution during the COVID-19 pandemic.
The transition from normal esophageal tissue to squamous carcinoma is characterized by an altered SOX2 cistrome. This transcriptional reprogramming activates endogenous retroviruses and double-stranded RNA expression, creating a dependency on the RNA editing enzyme ADAR1.
An ABEmax-based screen identifies regulatory noncoding nucleotides in four loci that control erythroid fetal hemoglobin (HbF) expression. Targeting a repressor element raises HbF levels in cells from patients with sickle cell disease.
Gene expression, alternative splicing and DNA methylation profiles from human kidney samples provide insights into the effects of common variants influencing blood pressure. Mendelian randomization uncovers the effects of blood pressure on renal outcomes.
A plasma membrane transporter OsPHO1;2 coordinates phosphate reallocation essential for starch biosynthesis during grain filling of cereal crops, providing a potential breeding target for improving phosphate-use efficiency.
Genome assembly of the coral endosymbiont Symbiodinium microadriaticum shows that genes are arranged in alternating unidirectional blocks and are enriched at the ends of chromosomes. Chromosomes are composed of structural domains separated by boundaries that disappear when transcription is blocked.
A study of more than one million 23andMe research participants identifies genetic and nongenetic associations with COVID-19 susceptibility and severity.
Genetic analyses identify widespread sex-differential participation bias in population-based studies and show how this bias can lead to incorrect inferences. These findings highlight new challenges for association studies as sample sizes continue to grow.
Analysis of 11 flatfish genomes indicates that Pleuronectoidei and Psettodoidei are not a monophyletic group. Genomic and transcriptomic data suggest that the WNT and RA pathways played a role in the evolution of the specialized body of flatfish.
A new statistical approach to gene co-essentiality mapping identifies a genome-wide set of functional modules. This analysis predicts the functions of 108 uncharacterized genes.
A CRISPR screen combined with in vivo data identify ZNF410 as an indirect repressor of fetal hemoglobin. ZNF410 binds to and regulates CHD4 expression, which in turn silences fetal hemoglobin.
Genomic variations in 3,248 tetraploid cotton germplasms and multi-environmental genome-wide association analyses provide insights into the basis of geographic differentiation and fiber improvement in cultivated cotton.
Loss of function of the minor spliceosome component ZRSR2 enhances hematopoietic stem cell self-renewal through minor intron retention of its target LZTR1, which is a regulator of RAS-related GTPases. Minor intron retention of LZTR1 was also identified in Noonan syndrome and diverse solid tumor types.