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In this Perspective, Werner and colleagues discuss the many potential mechanisms by which natural antisense transcripts (NATs) can regulate expression of their complementary sense transcripts, the biological implications of their regulatory effects and the potential of NATs for therapeutic applications.
Multiple mechanisms have evolved to prevent or trap deleterious unwanted transcripts. The unwanted transcript hypothesis proposes that selection at synonymous sites favours mutations that prevent the generation of unwanted transcripts or that make native transcripts appear ‘wanted’ by being GC-rich.
This Perspective reviews large-scale genomics and longitudinal phenomics efforts and the insights they can provide into wellness. The authors describe their vision for the transformation of the current health care from disease-oriented to data-driven, wellness-oriented and personalized population health.
In this Perspective, Carolyn Hogg discusses the utility of genomic data to conservation and the importance of adopting a translational mindset to ensure that genomics is used to its full potential to protect Earths’ declining biodiversity.
Commemorating the 40th anniversary of Barbara McClintock’s Nobel Prize in Physiology or Medicine for her discovery of transposable elements, Cédric Feschotte reflects on McClintock’s life and legacy and how her work has shaped and defined the field of genetics.
In this Perspective, Lim et al. discuss the potential benefits of, and the challenges associated with, translating single-cell genomic approaches from research to clinical settings.
In this Perspective, Harden reviews the terms genetic determinism, genetic essentialism and genetic reductionism to provide consensus and clarity about the meaning of these terms. She discusses common misconceptions, illustrates examples and concludes with recommendations for science communication.
In this Perspective, the authors discuss how regulated alternative splicing can generate phenotypic diversity and outline emerging evidence that alternative splicing contributes to adaptation and species divergence.
Commemorating the 200th birthday of Gregor Mendel, Kim Nasmyth reflects on Mendel’s life and legacy and how his work has shaped and defined the field of modern genetics.
In this Perspective, Pecori et al. provide an overview of the AID/APOBEC cytidine deaminase family, discussing key structural features, how they contribute to viral and tumour evolution and how they can be harnessed for (potentially therapeutic) base-editing purposes.
This Perspective highlights privacy issues related to the sharing of functional genomics data, including genotype and phenotype information leakage from different functional genomics data types and their summarization steps. The authors also review the techniques that will enable broad sharing and analysis while maintaining privacy.
In this Perspective article, Oh and Petronis discuss emerging evidence of time-dependent patterns of DNA modification and describe how incorporating this ‘chrono-epigenetic’ perspective could add value and interpretability in human disease studies.
In this Perspective, Teschendorff and Feinberg describe how single-cell analysis methods based on statistical mechanics can provide valuable insights into developmental phenomena, such as differentiation potency and lineage trajectories, as well as disruption of these processes in cancer.
Although cancer genetics analyses have often focused on individual mutations of classic cancer genes, a wealth of cancer sequencing data are allowing a more comprehensive understanding of the cumulative effects of mutations genome-wide. In this Perspective article, the authors propose how the burden of different types of mutation — from point mutations to large-scale chromosomal aberrations — has distinct and compensatory effects on tumour fitness and selection during different stages of cancer evolution.
This Perspective reviews efforts to map six different RNA modifications — pseudouridine (Ψ), 5-methylcytidine (m5C), N1-methyladenosine (m1A), N4-acetylcytidine (ac4C), ribose methylations (Nm) and N7-methylguanosine (m7G) — and how they differ from N6-methyladenosine (m6A). The authors discuss the technical and analytical challenges of characterizing the epitranscriptome and provide their own conclusions on the abundance and distribution of these modifications.
Recent studies have demonstrated that concomitant activity of de novo methylation and demethylation machineries results in rapid turnover of DNA methylation in certain contexts. The authors review this phenomenon and propose that DNA methylation turnover may facilitate key lineage decisions.
Increased capacities for sequencing and genotyping are enabling a more comprehensive understanding of the genetics of adaptation for diverse species. In this Perspective, Barghi, Hermisson and Schlötterer describe how polygenic adaptation can be studied using a framework of ‘adaptive architecture’ that unifies principles from the traditionally disparate fields of quantitative genetics and molecular population genetics.
In this Perspective article, the authors discuss how Indigenous Peoples' desires for greater involvement and oversight when participating in genomic research projects can be balanced against calls for unrestricted data access. They provide practical recommendations for the handling and sharing of Indigenous genomic data, with the aim of achieving mutual benefit for the research community and participating Indigenous communities.
In this Perspective article, Cheetham, Faulkner and Dinger describe our latest understanding of pseudogenes, which are typically defined as defective copies of regular genes. They argue that being open minded about potential functionality, as well as carefully designing functional studies, will lead to a growing appreciation of emerging functional roles of these understudied elements.
Incessant encounters of all cellular life forms with mobile genetic elements (MGEs) have driven the evolution of diverse defence mechanisms, including CRISPR–Cas and restriction–modification systems. In this Perspective, Koonin, Makarova, Wolf and Krupovic describe the surprisingly intricate interplay between MGEs and host defence systems. Not only do defence systems commonly show high horizontal mobility but many molecular components are ‘guns for hire’ that have been co-opted by defence systems from MGEs and vice versa.
