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In this Review, Gaulton et al. discuss how single-cell epigenomic methods generate cell type-, subtype- and state-resolved maps of candidate cis-regulatory elements in heterogeneous human tissues that can help to interpret the genetic basis of common traits and diseases.
Differences in facial morphology distinguish vertebrates. Here, Selleri and Rijli discuss advances in multi-omics and single-cell technologies linking genes, transcriptional networks and epigenetic landscapes to the establishment of facial patterning and its variation, with an emphasis on normal and abnormal craniofacial morphogenesis.
In this Review, the authors describe the emerging field of single-cell genetics, which lies at the intersection of single-cell genomics and human genetics. They review the first single-cell expression quantitative trait loci studies, which combine single-cell information with genotype data at the population scale and thereby link genetic variation to the cellular processes underpinning key aspects of human biology and disease.
Arutyunyan et al. describe a spatially resolved, single-cell multi-omics map of the entire maternal–fetal interface in the first trimester of human pregnancy.
Mutations that affect primary cilia cause ciliopathies with variable severity and expressivity. The diversity of cilia across cell types, tissues and developmental stages enables their function as versatile signalling hubs but may underlie the disconnect between genotype and phenotype. This Review examines the structural and functional diversity of primary cilia, their dynamic regulation in different cellular and developmental contexts and their disruption in disease.
In this Journal Club, Loic Yengo discusses a study by Tenesa et al., who used height as a model complex trait to estimate the degree to which height similarity between spouses is caused by mate choice.
Sophie von der Heyden highlights a paper by Barber et al. that examined variations in the genetic structuring of populations of the mantis shrimp Haptosquilla pulchella, furthering our understanding of the evolutionary dynamics of marine species.
A new study in Science reports the mechanism through which TDP-43 enables correct processing of STMN2 mRNA, and proposes strategies to restore neuronal Stathmin-2 synthesis in TDP-43 proteinopathies.
Variant calling is the process of identifying genetic variants, which is important for characterizing population genetic diversity and for identifying disease-associated variants in clinical sequencing projects. In this Review, the authors discuss the state-of-the-art in variant calling, focusing on challenging types of genetic variants, advances in both sequencing technologies and computational pipelines, and benchmarking strategies to assess the robustness of variant-calling strategies.
A paper in Cell introduces the EN-TEx resource, a detailed catalogue of allele-specific activity that can be used to develop deep learning models that analyse the biological impact of genetic variants.
In this Review, the authors discuss our growing knowledge of the underlying genetics of amyotrophic lateral sclerosis (ALS; also known as motor neuron disease). They discuss how this information provides insight into causal disease mechanisms and translational opportunities for developing clinical therapeutics.
Xu et al. report the development of genetic scores that predict multi-omic traits, enabling cost-effective and powerful analyses for studies that do not include multi-omics data.
Practitioners in the field of single-cell omics are now faced with diverse options for analytical tools to process and integrate data from various molecular modalities. In an Expert Recommendation article, the authors provide guidance on robust single-cell data analysis, including choices of best-performing tools from benchmarking studies.
Two studies analysing ancient hunter-gatherer genomes report detailed insights into the history and interactions of West Eurasian hunter-gatherer groups and highlight the genetic replacement of entire Ice Age populations.
In this Review, the authors discuss the latest advances in profiling multiple molecular modalities from single cells, including genomic, transcriptomic, epigenomic and proteomic information. They describe the diverse strategies for separately analysing different modalities, how the data can be computationally integrated, and approaches for obtaining spatially resolved data.
