Research Highlights

Reporting in Science, a team from Google DeepMind describe AlphaMissense, a tool to predict the pathogenicity of missense variants.

A paper in Nature finds that nuclear genetic variation can influence heteroplasmy and the human mitochondrial genome.

Guhlin et al. sequenced the genomes of almost the entire extant population of the critically-endangered kākāpō, revealing genetic variants for fitness-related traits that can inform conservation strategies.

Roohani et al. have developed a deep learning tool called GEARS that predicts the effects of multigene perturbations.

A paper in Science reports a time-resolved multiomic atlas of the human yolk sac, expanding knowledge of this poorly resolved structure in humans.

Breda et al. developed a method for gene editing bone marrow cells in vivo, circumventing the need for toxic conditioning regimens such as chemotherapy or radiation.

Two studies published in Nature investigate the genetic mechanisms of sex bias in cancers and implicate Y chromosome genes in contributing to the aggressiveness of bladder cancer and colorectal cancer in men.

Jacobs et al. report in Science that different co-repressors repress the transcriptional activity of different subsets of enhancers associated with genes of different function.

A study in Nature reports a strong association between asymptomatic SARS-CoV-2 infections and the HLA-B*15:01 allele and reveals mechanistic insights into its protective effect.

Zeng et al. introduce RIBOmap, a three-dimensional in situ imaging technique that enables the mapping of mRNAs undergoing translation.

Liang et al. report in Nature that complementary Alu sequences allow an enhancer to find its cognate promoter over long distances, potentially through the formation of RNA duplexes.

A study in Science identifies Mavericks, a class of ancient, virus-like transposable elements, as a vector for horizontal gene transfer in nematodes.

In five new studies, the Human Pangenome Reference Consortium reports the generation and initial characterization of a draft human pangenome.

A study in Nature Biotechnology describes Scriabin, a highly scalable framework for inference of cell–cell communication from scRNA-seq data at the level of individual cells.

Morris et al. present an integrated multi-omic workflow to identify target genes of noncoding variants for blood trait loci.

Hao et al. present a workflow to integrate single-cell datasets of diverse modalities using a multi-omic dataset as a molecular bridge.

A study in Nature integrates single-cell RNA-sequencing data from more than 1,000 tumour samples to report a pan-cancer atlas of intratumour transcriptional heterogeneity.

A study in Nature identified the presumed owner or maker of a 20,000-year-old pendant.

A study in Molecular Cell reveals how CTCF and cohesin contribute to genome organization through their roles in forming and stacking chromatin loops.

A study in Science describes a rationally designed synthetic gene oscillator that prolongs the lifespan of yeast.