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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.
Luis Barreiro highlights a 2007 paper by Tishkoff et al. that identified genetic variants associated with lactose persistence in East African populations, representing one of the first examples of convergent evolution in humans.
Antimicrobial resistance (AMR) is an important public health issue that affects human, animal and environmental sectors worldwide. The authors review the role of genomics in AMR surveillance using a One Health approach, and how genomic approaches can help mitigate the spread of AMR to improve global health.
Five leading researchers provide their perspectives on our current understanding of pioneer factors and their important gene regulatory roles in cell differentiation, cell fate determination and reprogramming.
In this Comment, Ahmad Abou Tayoun advocates for studies inclusive of historically under-represented populations to ensure equitable global access to genomic newborn screening.
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.
Ancient DNA studies over the past decade have yielded a plethora of insights into the Denisovan archaic hominin group. The authors review our understanding of Denisovan population history and their interactions with other human groups, insights from studies of Denisovan ancestry in modern humans, what we know about the Denisovan phenotype and their impact on our own evolutionary history.
Native nucleotide modifications regulate RNA function and metabolism, the study of which has revealed disease mechanisms, offers therapeutic potential and enables innovative clinical strategies. Chemical modifications in RNA are harnessed for clinical use in stable artificial RNAs such as mRNA vaccines and synthetic small RNA molecules.
Genomic imprinting — the monoallelic expression of genes based on their parent of origin — may have evolved due to an intragenomic conflict between maternal and paternal genomes within an individual, with differential interests regarding the level of parental caregiving. Here, the authors review the influence of genomic imprinting on parenting behaviour in mammals, with a focus on studies in mice.
Marnie Blewitt highlights the visionary 1961 paper by Mary Lyon in which she proposed that dosage compensation in female mammals involves X-inactivation and recognized its implications for sex-specific phenotypes in X-linked disorders.
In this Review, Zhang et al. discuss how recent advances in computational methods are helping to reveal the multiscale features involved in genome folding within the nucleus and how the resulting 3D genome organization relates to genome function.
Applying deep learning to large-scale genomic data of species or populations is providing new opportunities to understand the evolutionary forces that drive genetic diversity. This Review introduces common deep learning architectures and provides comprehensive guidelines to implement deep learning models for population genetic inference. The authors also discuss current opportunities and challenges for deep learning in population genetics.
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.
In April 2023, leading experts met with members of US Congress to discuss strategies to ensure global food security. Following on from this, Pamela Ronald emphasizes the role that plant genetics has in achieving these goals.
This Review summarizes the genetic and non-genetic factors that impact the transferability of polygenic risk scores (PRSs) across populations, highlighting the technical challenges of existing PRS construction methods for diverse ancestries and the emerging resources for more widespread use of PRSs.
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.
