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Nature Reviews Genetics @natrevgenet.nature.com · 23/09/2026

📢 Our October issue is live: go.nature.com/4yhqzow Reviews include: circadian genetics in health and disease; the roles of cohesion and loop extrusion in genome maintenance; computational approaches for multimodal lineage tracing; variant prioritization for crop breeding

Illustration of a distorted blue clock melting over the corner of a structure, flanked by abstract, organic shapes in earthy browns, greens, cream and deep red. A small insect hovers near the clock face. The surreal composition evokes themes of altered time, ageing and biological change.

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Nature Reviews Genetics @natrevgenet.nature.com · 19/08/2026

📢 Our September issue is live: go.nature.com/4wzkUbu Reviewed topics include: genetics of retinal and macular degeneration; molecular mechanisms of flowering time control; evolutionary genetics of ageing; and liquid biopsies in precision oncology

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Nature Reviews Genetics @natrevgenet.nature.com · 17/07/2026

📢 Our August issue is live: go.nature.com/4ptn3DV Reviewed topics include: ex vivo and in vivo engineered cell therapies; genetic influences on haematopoiesis; CRISPR–Cas-based live cell imaging of genome dynamics; methods and strategies to study alternative splicing

Illustrated cover image inspired by next-generation programmable cell therapies. A dark blue computer-chip-like circuit board is overlaid with red-filled test tubes and gold DNA-like segments. Large dome-shaped structures resemble engineered cells integrated into electronic networks, symbolising the convergence of synthetic biology, genetic programming and precision medicine.

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Nature Reviews Genetics @natrevgenet.nature.com · 19/06/2026

📢 Our July issue features a Focus issue on Evolutionary Innovation go.nature.com/4evCAhg Read about it in our Editorial "Genetic origins and constraints of evolutionary innovation": go.nature.com/4eDfHbL

Red cable car moving up icy blue-ringed 'fitness' peaks

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Nature Reviews Genetics @natrevgenet.nature.com · 11/06/2026

How to do science that matters: Computational biologist @casey.greenelab.com on purpose-driven open science practices Read the interview here: go.nature.com/4uWAQoe

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Nature Reviews Genetics @natrevgenet.nature.com · 11/06/2026

Open science, altruism and impact: An interview with clinical geneticist @zornitza.bsky.social Read the interview here: go.nature.com/4aJsp7B

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Nature Reviews Genetics @natrevgenet.nature.com · 10/06/2026

Synthetic biology approaches for studying the segmentation clock #Figure from our Review "Progress in understanding the vertebrate segmentation clock" by Akihiro Isomura & Ryoichiro Kageyama rdcu.be/fnyV0

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Nature Reviews Genetics @natrevgenet.nature.com · 21/05/2026

Strategies to dissect the genetic basis of host–pathogen interactions. Figure from: Ancient DNA insights into diverse pathogens and their hosts (Free to read here: rdcu.be/eSVPN)

A, To detect resistance in host genomes, studies use association tests in living populations to identify candidate disease susceptibility or resistance alleles (Aa), and then selection on hosts can be tracked by the change in frequency of candidate alleles through time53 (Ab). B, To detect adaptation in pathogen genomes, studies can quantify pseudogenization, which implies host tropism compared with generalist lineages (Ba); the emergence of host tropism can be inferred through molecular clock calibration by the dates of ancient pathogen genomes67,68 (Bb). C, Functional palaeogenomics can reveal differences in virulence, which can be compared with human behaviour, social organization and treatment of animals as evidenced in the historical and archaeological records12.

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Nature Reviews Genetics @natrevgenet.nature.com · 21/05/2026

📢 Our June issue is live: go.nature.com/42JCgGn Reviewed topics include: genome annotation; single-cell lineage-tracing methods and their applications; RNA–protein complexes; gene regulatory networks

Blue and red train carriages on tracks reminiscent of exon/intron structure of genes

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Nature Reviews Genetics @natrevgenet.nature.com · 21/04/2026

📢 Our May issue is live! go.nature.com/4tHuWqF Reviews include: causal and mechanistic modelling approaches for perturbation responses in single cells; genomic and epigenomic insights into human centromeres; alternative polyadenylation in health and disease; ancestral diversity in complex disease

Pinball machine with DNA as launcher and cells as balls

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Nature Reviews Genetics @natrevgenet.nature.com · 20/03/2026

📢 Our April issue is live! go.nature.com/40JaCbw Reviews include: proteoform medicine; statistical methods to identify and characterize pleiotropic genetic variants; the molecular evolution of parenting and sociality; how to monitor the biological effects of genome editing across scales

A DNA helix on a bed and in front of differently shaped clouds (proteoforms)

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Nature Reviews Genetics @natrevgenet.nature.com · 02/03/2026

In their Review, @alejofraticelli.bsky.social and Victoria Parreno describe the modern toolbox for single-cell lineage tracing, including synthetic lineage tracing as well as natural lineage tracing in humans by sequencing genomic and epigenomic variants, and its applications

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Nature Reviews Genetics @natrevgenet.nature.com · 02/03/2026

These studies are leading to the re-evaluation of long-standing paradigms in development, ageing and cancer biology. They are also revealing the underpinnings of phenotypic heterogeneity across cellular functions, including regeneration and stress responses.

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Nature Reviews Genetics @natrevgenet.nature.com · 02/03/2026

Advances in synthetic and natural barcoding methods now enable cellular ancestries to be reconstructed with unprecedented single-cell resolution. By quantifying and describing the heterogeneity in cellular dynamics and states, single-cell tracing technologies open new possibilities across fields.

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Nature Reviews Genetics @natrevgenet.nature.com · 19/02/2026

📢 Our March issue is live! go.nature.com/4cCPzhN Reviews include: cellular reprogramming; AI for CRISPR-based genome editing; genomics of drug target prioritization for complex diseases; and the clinical utility of polygenic risk scores

4 cocktail glasses of different shapes and colours on a background of little tiles

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Nature Reviews Genetics @natrevgenet.nature.com · 28/01/2026

Germ cell development across model organisms From our #Review: How germ granules promote germ cell fate by Melissa C. Pamula & Ruth Lehmann @remlehmann.bsky.social @whiteheadinstitute.bsky.social Free to read here: rdcu.be/e05TK

Summary of germ cell development in various model organisms

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Nature Reviews Genetics @natrevgenet.nature.com · 21/01/2026

📢 Our February issue is live! go.nature.com/4jTt2z5 Reviewed topics include: how spatial omics has reshaped our understanding of human development and disease; multiplexed assays of variant effect (MAVEs); haplotype phasing and genotype imputation; forensic genetics in the omics era

Illustrated night sky with planets (cells), a shooting star, and star constellations against a blue grid background reminiscent of architectural drawings.

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Nature Reviews Genetics @natrevgenet.nature.com · 15/01/2026

An increasing knowledge of proteoform biology from molecular, systems and clinical perspectives will guide future research, ultimately contributing to a more precise understanding of the molecular basis of disease and refined therapeutic interventions

Proteoform-resolved therapeutic strategies across molecular and network scales

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Nature Reviews Genetics @natrevgenet.nature.com · 15/01/2026

Precision medicine will require precision proteomics. Disease-associated proteoforms are precise biomarkers and therapeutic targets across cancers, neurodegenerative disorders and cardiovascular disease

Proteoform-resolved networks reveal functional rewiring beyond gene-level models

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Nature Reviews Genetics @natrevgenet.nature.com · 15/01/2026

Cutting-edge technologies for the identification and characterization of proteoforms, including long-read transcriptomics and emerging methods for direct protein sequencing, are revealing how proteoforms can perturb the molecular interactions and cellular pathways underlying disease phenotypes

The map–perturb–predict conceptual framework for proteoform medicine

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Nature Reviews Genetics @natrevgenet.nature.com · 15/01/2026

There are estimated to be more than 1 million distinct protein variants produced from ~20,000 protein-coding genes in a given cell, and protein-level variation is extensive and both functionally and clinically relevant

Combinatorial complexity of protein variation

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Nature Reviews Genetics @natrevgenet.nature.com · 15/01/2026

Proteoforms are the diverse molecular protein species produced from a single gene through genetic variation, alternative splicing and post-translational modifications. They are the crucial link between genotype and phenotype.

Overview of proteoform diversity, molecular ontogeny and functional examples of reference and alternative proteoforms from five well-characterized examples

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Nature Reviews Genetics @natrevgenet.nature.com · 15/12/2025

📢 Our January issue is live and it's a special one🦠🧫! Featuring a range of article types, including Reviews, Comments and Journal Club articles, this Focus issue explores the insights gained from the application of microbial genomics within ecological and evolutionary contexts go.nature.com/3MNmsgR

Human figure wrapped in DNA, surrounded by viruses, bacteria, and other microorganisms, with a globe in the background, symbolizing global health and genetics.

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Nature Reviews Genetics @natrevgenet.nature.com · 10/12/2025

2025 in Nature Reviews Genetics covers - a huge thank you to our brilliant art editor Pat Morgan, who does all the artwork for the journal and is a fantastic colleague and very talented artist!

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Nature Reviews Genetics @natrevgenet.nature.com · 27/11/2025

Functions of RNA m6A methylation at the molecular, genomic and organismal level: go.nature.com/484M6pB Free to read here: rdcu.be/eR4zx

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Nature Reviews Genetics @natrevgenet.nature.com · 27/11/2025

Successful drug development depends on identifying effective targets and optimizing drug design and clinical trial strategies. The authors review computational strategies, including ML, for integrating genetics into pharmaceutical pipelines go.nature.com/4pzCMjs

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Nature Reviews Genetics @natrevgenet.nature.com · 27/11/2025

All you need to know about DNA-based recording and how molecular recording can transform the way we study developmental and disease processes The lives of cells, recorded go.nature.com/3XYVh4V Free to read here: rdcu.be/d1s8d

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Nature Reviews Genetics @natrevgenet.nature.com · 24/11/2025

Want to know about using machine learning for alternative splicing predictions? Read our recent Review: From computational models of the splicing code to regulatory mechanisms and therapeutic implications go.nature.com/4oYCL8N (free to read here: rdcu.be/dVNV4)

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Nature Reviews Genetics @natrevgenet.nature.com · 14/11/2025

Our December 2025 issue is now live: go.nature.com/3Lx0PB0 Topics include: the evolution of transcriptional regulatory mechanisms in animals; cell-type deconvolution methods for spatial transcriptomics; fine-mapping of candidate causal variants; and genomics of psychiatric disorders

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Nature Reviews Genetics @natrevgenet.nature.com · 31/10/2025

DNA and RNA modification mapping methods based on next-generation sequencing and long-read sequencing technologies go.nature.com/47yAbPc

a, Next-generation sequencing (NGS)-based methods require pretreatment or pre-labelling of the nucleic acid with antibodies (left), restriction enzymes or endonucleases (middle), or chemicals (right) before sequencing, so that modified and unmodified bases can be distinguished during NGS sequencing. b, Long-read sequencing (LRS)-based methods can directly detect modified bases. In single-molecule, real-time (SMRT) sequencing (left), a DNA polymerase (or reverse transcriptase for RNA) is bound within the zero-mode waveguide (ZMW). When a dNTP is incorporated at the polymerase active site, it will emit a fluorescent pulse in the corresponding colour channel. The order of pulses provides the read sequence and inter-pulse duration (IPD) between base incorporation events indicates the presence of a covalent modification in the DNA or RNA template. Nanopore sequencing (right) relies on engineered biological nanopores embedded in a lipid membrane to sequence single-stranded DNA (ssDNA) or RNA. The ionic current measured as DNA or RNA gets ratcheted through the nanopore depends on the precise set of nucleotides occupying the constriction point. Modified nucleotides in the ssDNA or RNA introduce distinct current patterns, making it possible to detect the existence of modified bases relative to non-modified nucleotides.

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Nature Reviews Genetics @natrevgenet.nature.com · 15/10/2025

Our November 2025 issue is now live: go.nature.com/4hlXnVx Topics include: the impact of structural variation on the 3D genome in disease; single-cell DNA sequencing of somatic mutations; the role of transcription compartments in gene regulation; synonymous mutations and their consequences

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Nature Reviews Genetics @natrevgenet.nature.com · 09/10/2025

The authors discuss challenges, opportunities and promising examples in advancing spatial technologies to clinical applications, including the increasing importance of artificial intelligence, and explore possible avenues for a more comprehensive, multidimensional assessment of tissues

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Nature Reviews Genetics @natrevgenet.nature.com · 09/10/2025

This Review examines spatially resolved pathological molecular alterations in a wide range of disease processes, such as developmental disorders, tumorigenesis, fibrosis and injury responses, neurodegeneration, infection and inflammation, through the lens of universal biological frameworks

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Nature Reviews Genetics @natrevgenet.nature.com · 09/10/2025

Spatial analysis empowers the discovery of developmental and disease-associated molecular signatures, cell states and multicellular niches, as well as the evaluation of disease heterogeneity within and across organs

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Nature Reviews Genetics @natrevgenet.nature.com · 09/10/2025

Recent advances in high-throughput spatial omics technologies have enabled the investigation of this complexity in stunning detail, providing groundbreaking insights into how spatial molecular organization shapes health and disease

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Nature Reviews Genetics @natrevgenet.nature.com · 09/10/2025

Tissue architecture is a product of a multilayered molecular landscape, where even subtle disruptions in the spatial context can initiate or reflect disease processes

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Nature Reviews Genetics @natrevgenet.nature.com · 16/09/2025

Happy 25th anniversary to us! We're celebrating the journal's birthday with a bumper issue: go.nature.com/3VSbPdW Read more in our editorial "Making sense of the regulatory genome": go.nature.com/3IbWP7F And don't miss our new collection on "Long-read sequencing": go.nature.com/41Yy1Xs

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Nature Reviews Genetics @natrevgenet.nature.com · 26/08/2025

Happy #InternationalDogDay! To commemorate, here is one of our favourite NRG covers of all time, based on a review by Elaine A. Ostrander, Robert K. Wayne, Adam H. Freedman & Brian W. Davis on the canine genome go.nature.com/3JP9CNw

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Nature Reviews Genetics @natrevgenet.nature.com · 18/08/2025

Our September 2025 issue is now live: go.nature.com/47FpUCu Topics include: epigenome dynamics during early mammalian development; the genetics of human height; long-read computational analysis of DNA methylation; methodological approaches to promote equity in genomics

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Nature Reviews Genetics @natrevgenet.nature.com · 14/08/2025

Primary cilia as dynamic and diverse signalling hubs in development and disease go.nature.com/4fBBalv #Review by Pleasantine Mill @cilialab.bsky.social, ‪@sorentc.bsky.social‬ & @lottepedersen.bsky.social

Schematic of a generic primary cilium showing the main ciliary subcompartments

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Nature Reviews Genetics @natrevgenet.nature.com · 18/07/2025

Our August 2025 issue is now live: go.nature.com/4kIXzOI Topics include: systems biology in the single-cell era; ADAR1-mediated RNA editing; retrotransposable element reactivation and its biological impact; transcriptional condensates as temporal signal integrators; X-linked competition

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Nature Reviews Genetics @natrevgenet.nature.com · 02/07/2025

Evolution of splicing model architectures go.nature.com/4eweliE Figure from our recent Review: From computational models of the splicing code to regulatory mechanisms and therapeutic implications (free to read here: rdcu.be/dVNV4)

a, Early models built sequence motifs to describe the consensus sequences of individual core splicing elements, such as splice sites (SSs) and intronic and/or exonic enhancers and silencers. Statistical and machine-learning models were built to output the probability of a novel sequence acting as a core splicing element. The sequence logos shown for 5′SS and 3′SS were generated from Human hg38 RefSeq annotations (code available at https://www.github.com/ulelab/splicelogos). b, As our understanding of splicing mechanisms progressed, expert-selected features were extracted from sequences and used to train integrative models to predict splicing outcomes. c, With the advent of deep-learning, models could jointly learn features directly from raw sequence input. Although theoretically, sequence context could be as large as shown in part d, in practice smaller windows of up to 30 kb have been used. d, Supervised models with convolutional and transformer layers produce multimodal genome-wide data. These models use a much larger sequence context and can predict genome-wide data including RNA sequencing coverage, which can be further processed to evaluate splicing. e, By learning how to reconstruct partially masked genomic sequences across multiple species, self-supervised masked language models capture evolutionarily conserved sequence elements and their functional context in a very generic and flexible fashion. The informative numerical representations obtained by large language models can be used for splicing prediction tasks. Here 3′SS within different sequence contexts from multiple species are shown aligned for easier interpretation, but in practice sequences do not have to be aligned. Current masked language models with application to splicing use variable context windows from 1,000 to 1 million base pairs; however, it is currently unclear whether larger context windows confer better performance

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Nature Reviews Genetics @natrevgenet.nature.com · 19/06/2025

Our July 2025 issue is now live: go.nature.com/3ZzmXyQ Topics include: structural variation in the human genome; cytoplasmic mRNA decay; the mammalian segmentation clock; genetic models and genomic studies of cancer metastasis

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Nature Reviews Genetics @natrevgenet.nature.com · 28/05/2025

The somatic DNA methylation landscape Figure from our #Review by Zachary D. Smith, Sara Hetzel & Alexander Meissner: DNA methylation in mammalian development and disease go.nature.com/3DlswZn Free to read here: rdcu.be/dQEND

Magnified view of partially methylated domains or highly methylated domains over CpG islands and DNA methylation valleys (DMVs)

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Nature Reviews Genetics @natrevgenet.nature.com · 21/05/2025

Our June issue is live and includes an editorial on RNA splicing (go.nature.com/3SdWVgk) that acts as a foreword for a new joint collection by @natrevgenet.nature.com‬ and ‪@natrevmcb.nature.com‬ on this topic (go.nature.com/3H0vEvp)

RNA ribbon that is being cut and re-stitched together, representing pre-mRNA splicing of introns and exon ligation

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Nature Reviews Genetics @natrevgenet.nature.com · 14/05/2025

In this Review, the authors discuss the principles of these models, the types of training data sets that are available and the strengths and limitations of different approaches

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Nature Reviews Genetics @natrevgenet.nature.com · 14/05/2025

S2E models also show great promise in predicting the effects of non-coding variants, in uncovering detailed molecular mechanisms of gene regulation and designing synthetic regulatory elements for biotechnology

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Nature Reviews Genetics @natrevgenet.nature.com · 14/05/2025

Sequence-to-expression (S2E) models enable predictions of gene expression levels from DNA sequence alone and capture the regulatory grammar with remarkable accuracy

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Nature Reviews Genetics @natrevgenet.nature.com · 14/05/2025

Recent advances in deep learning techniques applied to data from epigenome mapping and high-throughput reporter assays have made substantial progress towards addressing this complexity

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Nature Reviews Genetics @natrevgenet.nature.com · 14/05/2025

Transcription is regulated by DNA elements such as promoters and enhancers, the activity of which is controlled by many transcription factors. Given the highly complex combinatorial logic involved, it has been difficult to construct computational models that predict gene activity from DNA sequence

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