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| Open AccessRefining the impact of genetic evidence on clinical success
Human genetic evidence increases the success rate of drugs from clinical development to approval but we are still far from reaching peak genetic insights to aid the discovery of targets for more effective drugs.
- Eric Vallabh Minikel
- , Jeffery L. Painter
- & Matthew R. Nelson
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Article
| Open AccessHybrid speciation driven by multilocus introgression of ecological traits
Genomic studies of Heliconius butterflies provide evidence that Heliconius elevatus is a hybrid species, and that its speciation was driven by introgression of traits from Heliconius melpomene into the other parent, an ancestor of Heliconius pardalinus.
- Neil Rosser
- , Fernando Seixas
- & Kanchon K. Dasmahapatra
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Nature Podcast |
The ‘ghost roads’ driving tropical deforestation
Researchers find that a huge number of roads that don’t appear on official maps, and the protein that could determine whether someone is left-handed.
- Nick Petrić Howe
- & Benjamin Thompson
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Research Briefing |
Genetic risk variants lead to type 2 diabetes development through different pathways
The largest genome-wide association study for type 2 diabetes so far, which included several ancestry groups, led to the identification of eight clusters of genetic risk variants. The clusters capture different biological pathways that contribute to the disease, and some clusters are associated with vascular complications.
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Article |
Cell-type-resolved mosaicism reveals clonal dynamics of the human forebrain
Using mosaic variant barcode analysis, clonal dynamics of specific cell types are deconvolved in the human forebrain.
- Changuk Chung
- , Xiaoxu Yang
- & Joseph G. Gleeson
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Comment |
AI can help to tailor drugs for Africa — but Africans should lead the way
Computational models that require very little data could transform biomedical and drug development research in Africa, as long as infrastructure, trained staff and secure databases are available.
- Gemma Turon
- , Mathew Njoroge
- & Kelly Chibale
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Research Highlight |
Advanced CRISPR system fixes a deadly mutation in cells
Applying a ‘base editor’ allows cells to crank out increased levels of a vital metabolic enzyme.
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Research Briefing |
Five steps to connect genetic risk variants to disease
Genetic variants contribute to the risk of developing certain diseases, but identifying the genes and molecular pathways under their control has been difficult. Now, a systematic approach to pinpointing these factors yields insights into how a specific pathway in endothelial cells influences the risk of coronary artery disease.
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Nature Podcast |
Pregnancy’s effect on ‘biological’ age, polite birds, and the carbon cost of home-grown veg
We round up some recent stories from the Nature Briefing.
- Benjamin Thompson
- , Noah Baker
- & Flora Graham
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Article
| Open AccessThe variation and evolution of complete human centromeres
A comparison of two complete sets of human centromeres reveals that the centromeres show at least a 4.1-fold increase in single-nucleotide variation compared with their unique flanks, and up to 3-fold variation in size, resulting from an accelerated mutation rate.
- Glennis A. Logsdon
- , Allison N. Rozanski
- & Evan E. Eichler
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Article
| Open AccessImproving prime editing with an endogenous small RNA-binding protein
Genome-scale genetic screens identify the small RNA-binding protein La as a strong mediator of prime editing.
- Jun Yan
- , Paul Oyler-Castrillo
- & Britt Adamson
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News |
Right- or left-handed? Protein in embryo cells might help decide
Gene that codes for structural protein could determine the dominant side of the human brain.
- Sumeet Kulkarni
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Article |
Complexity of avian evolution revealed by family-level genomes
- Josefin Stiller
- , Shaohong Feng
- & Guojie Zhang
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News |
Scientists made a six-legged mouse embryo — here’s why
A rodent with two extra limbs instead of genitals shows the crucial role of a gene pathway in determining the fate of a primordial structure.
- Sara Reardon
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Nature Podcast |
How climate change is affecting global timekeeping
Melting polar ice could delay major time adjustment, and the strange connection between brain inflammation and memory.
- Elizabeth Gibney
- & Nick Petrić Howe
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Article
| Open AccessThe complex polyploid genome architecture of sugarcane
We build a polyploid reference genome for hybrid sugarcane cultivar R570, improving on its current ‘mosaic monoploid’ representation, enabling fine-grain description of genome architecture and the exploration of candidate genes underlying the Bru1 brown rust resistance locus.
- A. L. Healey
- , O. Garsmeur
- & A. D’Hont
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Article |
Targeting DCAF5 suppresses SMARCB1-mutant cancer by stabilizing SWI/SNF
DCAF5 has a quality-control function for SWI/SNF complexes and promotes the degradation of incompletely assembled SWI/SNF complexes in the absence of SMARCB1.
- Sandi Radko-Juettner
- , Hong Yue
- & Charles W. M. Roberts
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News |
Pregnancy advances your ‘biological’ age — but giving birth turns it back
Carrying a baby creates some of the same epigenetic patterns on DNA seen in older people.
- Saima Sidik
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Technology Feature |
One year, three researchers, millions of cells: how a small team created the largest mouse-embryo atlas so far
A map of mouse development from conception to birth tracks 12.4 million cells at single-cell resolution as they mature into organs and other tissues.
- Sara Reardon
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Research Briefing |
Neuron migration to brain regions key to memory and navigation continues into childhood
This study identifies a major migratory route for young neurons in the brains of young children. This route forms during pregnancy and links the birthplace of these nerve cells to their destination in highly interconnected brain regions that are responsible for memory and spatial processing.
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News |
Ancient malaria genome from Roman skeleton hints at disease’s history
Genetic information from ancient remains is helping to reveal how malaria has moved and evolved alongside people.
- Tosin Thompson
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Article
| Open AccessSpatially organized cellular communities form the developing human heart
Combining single-cell RNA-sequencing with high-resolution multiplexed error-robust fluorescence in situ hybridization reveals in detail the cellular interactions and specialization of cardiac cell types that form and remodel the human heart.
- Elie N. Farah
- , Robert K. Hu
- & Neil C. Chi
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Correspondence |
On the ethics of informed consent in genetic data collected before 1997
- Martin Zieger
- , Yann Joly
- & Maria Eugenia D’Amato
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Article
| Open AccessSelfish conflict underlies RNA-mediated parent-of-origin effects
In Caenorhabditis tropicalis, selective expression of genetic alleles from one parent but not the other can arise from maternally inherited small transcripts acting via the PIWI-interacting RNA host defence pathway.
- Pinelopi Pliota
- , Hana Marvanova
- & Alejandro Burga
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News & Views |
Mammalian cells repress random DNA that yeast transcribes
In experiments dubbed the Random Genome Project, researchers have integrated DNA strands with random sequences into yeast and mouse cells to find the default transcriptional state of their genomes.
- Sean R. Eddy
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News |
Oldest stone tools in Europe hint at ancient humans’ route there
Dating of artefacts found at a site in western Ukraine suggests that archaic humans had entered Europe’s eastern gate by 1.4 million years ago.
- Giorgia Guglielmi
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Article
| Open AccessGenome-wide characterization of circulating metabolic biomarkers
A meta-analysis of genome-wide association studies for 233 circulating metabolites from 33 cohorts reveals more than 400 loci and suggests probable causal genes, providing insights into metabolic pathways and disease aetiology.
- Minna K. Karjalainen
- , Savita Karthikeyan
- & Johannes Kettunen
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Article
| Open AccessA concerted neuron–astrocyte program declines in ageing and schizophrenia
A synaptic neuron and astrocyte program (SNAP) varies among healthy humans, may shape interindividual differences in synapses and plasticity, and is undermined in schizophrenia and with advancing age.
- Emi Ling
- , James Nemesh
- & Steven A. McCarroll
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Article
| Open AccessSynthetic reversed sequences reveal default genomic states
Introduction of a long synthetic DNA into yeast genomic loci results in high default transcriptional activity in yeast but low activity in mouse, suggesting distinct default levels of genomic activity in these organisms.
- Brendan R. Camellato
- , Ran Brosh
- & Jef D. Boeke
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News |
Genetics solves mystery of rare brown pandas after 40 years
Chinese researchers find the gene responsible for the brown-and-white fur of a handful of giant pandas in China.
- Xiaoying You
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News |
Oldest known animal sex chromosome evolved in octopuses 380 million years ago
Result reveals for the first time how some cephalopods determine sex.
- Carissa Wong
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Nature Podcast |
Could this one-time ‘epigenetic’ treatment control cholesterol?
Regulating gene expression lowers blood cholesterol in mice, and how the Universe’s cosmic fog was lifted.
- Nick Petrić Howe
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News |
‘Epigenetic’ editing cuts cholesterol in mice
Changes to chemical tags on DNA in mice dial down the activity of a gene without cuts to the genome.
- Heidi Ledford
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Spotlight |
Stealthy stem cells to treat disease
Gene-editing strategies that allow stem cells to evade the immune system offer hope for universal cell-replacement therapies.
- Elie Dolgin
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News & Views |
A mobile DNA sequence could explain tail loss in humans and apes
The lack of a tail is one thing that separates apes — including humans — from other primates. Insertion of a short DNA sequence into a gene that controls tail development could explain tail loss in the common ancestor of apes.
- Miriam K. Konkel
- & Emily L. Casanova
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Article
| Open AccessDurable and efficient gene silencing in vivo by hit-and-run epigenome editing
Experiments in mice show that designed epigenome editors that contain domains of transcriptional repressors can enable stable epigenetic silencing of Pcsk9, a gene with a role in cholesterol homeostasis, without inducing DNA breaks.
- Martino Alfredo Cappelluti
- , Valeria Mollica Poeta
- & Angelo Lombardo
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Article
| Open AccessOn the genetic basis of tail-loss evolution in humans and apes
An insertion of an Alu element into an intron of the TBXT gene is identified as a genetic mechanism of tail-loss evolution in humans and apes, with implications for human health today.
- Bo Xia
- , Weimin Zhang
- & Itai Yanai
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News |
The surprising link between gut bacteria and devastating eye diseases
Finding raises hopes that antibiotics could treat some genetic diseases that can cause blindness — but also prompts doubts.
- Saima Sidik
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News |
‘All of Us’ genetics chart stirs unease over controversial depiction of race
Debate over figure connecting genes, race and ethnicity reignites concerns among geneticists about how to represent human diversity.
- Max Kozlov
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News |
Why citizen scientists are gathering DNA from hundreds of lakes — on the same day
Massive environmental DNA project will take a record-setting snapshot of biodiversity worldwide.
- Lydia Larsen
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Technology Feature |
Super-speedy sequencing puts genomic diagnosis in the fast lane
Streamlined workflows for DNA and RNA sequencing are helping clinicians to deliver prompt, targeted care to people in days — or even hours.
- Michael Eisenstein
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Article
| Open AccessGenomic data in the All of Us Research Program
A study describes the release of clinical-grade whole-genome sequence data for 245,388 diverse participants by the All of Us Research Program and characterizes the properties of the dataset.
- Alexander G. Bick
- , Ginger A. Metcalf
- & Joshua C. Denny
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News |
Ambitious survey of human diversity yields millions of undiscovered genetic variants
Analysis of the ‘All of Us’ genomic data set begins to tackle inequities in genetics research.
- Max Kozlov
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Article
| Open AccessGenetic drivers of heterogeneity in type 2 diabetes pathophysiology
A meta-analysis of genome-wide association studies of type 2 diabetes (T2D) identifies more than 600 T2D-associated loci; integrating physiological trait and single-cell chromatin accessibility data at these loci sheds light on heterogeneity within the T2D phenotype.
- Ken Suzuki
- , Konstantinos Hatzikotoulas
- & Eleftheria Zeggini
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News |
Move over, CRISPR: RNA-editing therapies pick up steam
Two RNA-editing therapies for genetic diseases have in the past few months gained approval for clinical trials, raising hopes for safer treatments.
- Mariana Lenharo
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Article |
Deep whole-genome analysis of 494 hepatocellular carcinomas
The Chinese Liver Cancer Atlas project depicts a panoramic genomic landscape of hepatocellular carcinoma, covering candidate coding and non-coding drivers, mutational signatures, extrachromosomal circular DNA, subclonal catastrophic events and detailed evolutionary history.
- Lei Chen
- , Chong Zhang
- & Hongyang Wang
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Article
| Open AccessGenetic determinants of micronucleus formation in vivo
Genetic screening identifies a rich catalogue of regulators of micronucleus formation.
- D. J. Adams
- , B. Barlas
- & G. Balmus
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Article
| Open AccessA single-cell time-lapse of mouse prenatal development from gastrula to birth
Single-cell transcriptome profiling of mouse embryos and newborn pups is combined with previously published data to construct a tree of cell-type relationships tracing development from zygote to birth.
- Chengxiang Qiu
- , Beth K. Martin
- & Jay Shendure
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