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| Open AccessDeciphering cell states and genealogies of human haematopoiesis
An improved, single-cell lineage-tracing system, based on deep detection of naturally occurring mitochondrial DNA mutations with simultaneous readout of transcriptional states and chromatin accessibility, is used to define the clonal architecture of haematopoietic stem cells.
- Chen Weng
- , Fulong Yu
- & Vijay G. Sankaran
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News |
Did the Black Death shape the human genome? Study challenges bold claim
An ancient-DNA study of medieval Cambridge found no sign of genes that helped people to survive the plague, casting doubt on an earlier study.
- Ewen Callaway
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News |
Ancient DNA reveals first known case of sex-development disorder
Researchers identified six ancient humans with chromosomal conditions, including the earliest case of Turner syndrome.
- Carissa Wong
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News |
Medical AI falters when assessing patients it hasn’t seen
Physicians rely on algorithms for personalized medicine — but an analysis of schizophrenia trials shows that the tools fail to adapt to new data sets.
- Miryam Naddaf
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News & Views |
Prehistoric events might explain European multiple sclerosis risk
An exploration of more than 1,600 ancient Eurasian genomes suggests that genetic changes that increase autoimmune-disease risk in modern Europeans could have protected ancient Europeans from pathogens.
- Samira Asgari
- & Lionel A. Pousaz
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News |
Ancient DNA reveals origins of multiple sclerosis in Europe
A huge cache of ancient genomes spanning tens of thousands of years reveals the roots of traits in modern Europeans.
- Sara Reardon
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Article
| Open Access100 ancient genomes show repeated population turnovers in Neolithic Denmark
Integrated data, including 100 human genomes from the Mesolithic, Neolithic and Early Bronze Age periods show that two major population turnovers occurred over just 1,000 years in Neolithic Denmark, resulting in dramatic changes in the genes, diet and physical appearance of the local people, as well as the landscape in which they lived.
- Morten E. Allentoft
- , Martin Sikora
- & Eske Willerslev
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Article
| Open AccessPopulation genomics of post-glacial western Eurasia
An analysis involving the shotgun sequencing of more than 300 ancient genomes from Eurasia reveals a deep east–west genetic divide from the Black Sea to the Baltic, and provides insight into the distinct effects of the Neolithic transition on either side of this boundary.
- Morten E. Allentoft
- , Martin Sikora
- & Eske Willerslev
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Article
| Open AccessThe selection landscape and genetic legacy of ancient Eurasians
Analyses of imputed ancient genomes and of samples from the UK Biobank indicate that ancient selection and migration were large contributors to the distribution of phenotypic diversity in present-day Europeans.
- Evan K. Irving-Pease
- , Alba Refoyo-Martínez
- & Eske Willerslev
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Article
| Open AccessElevated genetic risk for multiple sclerosis emerged in steppe pastoralist populations
Analysis of a large ancient genome dataset shows that genetic risk for multiple sclerosis rose in steppe pastoralists, providing insight into how genetic ancestry from the Neolithic and Bronze Age has shaped modern immune responses.
- William Barrie
- , Yaoling Yang
- & Eske Willerslev
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Article
| Open AccessThe energetic and allosteric landscape for KRAS inhibition
Analysis of the effects of more than 26,000 KRAS mutations on abundance and interactions with six other proteins is used to construct an energy landscape of KRAS and identify allosteric drug target sites.
- Chenchun Weng
- , Andre J. Faure
- & Ben Lehner
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News & Views |
Gene expression of single cells mapped in tissue sections
A tool that tags individual cells in a tissue with a unique barcode means that the gene-expression profile of each cell can be plotted in its original location. This allows spatial information to be captured at single-cell resolution.
- Patrik L. Ståhl
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News |
Australian Indigenous genomes are highly diverse and unlike those anywhere else
In collecting genomic data for Indigenous Australians, scientists hope to expand knowledge of human genetic diversity and improve health for this group.
- Bianca Nogrady
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News & Views |
Indigenous diversity in Australia’s DNA tapestry unlocked for genetic equity
Diverse genomic sequences might boost equity in areas such as health care. Genomic data from Indigenous Australians, shared through a community-consultation framework, aids efforts to boost genetic representation.
- Katrina G. Claw
- & Amber Nashoba
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News & Views Forum |
Cellular atlases of the entire mouse brain
In a huge collaborative effort, millions of cells in the mouse brain have been mapped in detail. Two scientists examine the resulting wealth of insights into gene regulation in brain cells, neuronal connections and how our own brains evolved.
- Maria Antonietta Tosches
- & Heather J. Lee
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Article
| Open AccessThe landscape of genomic structural variation in Indigenous Australians
Population-scale whole-genome sequencing across four remote Indigenous Australian communities reveals a large fraction of structural variants that are unique to these populations, emphasizing the genetic distinctiveness of and diversity among Indigenous Australians.
- Andre L. M. Reis
- , Melissa Rapadas
- & Ira W. Deveson
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Article
| Open AccessIndigenous Australian genomes show deep structure and rich novel variation
Analysis of the genomes of 159 individuals from four Indigenous communities in Australia shows a high level of genetic variation and demonstrates the need for greater representation of Indigenous Australians in reference panels and clinical databases.
- Matthew Silcocks
- , Ashley Farlow
- & Stephen Leslie
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Article
| Open AccessThe molecular cytoarchitecture of the adult mouse brain
To construct a comprehensive atlas of cell types in each brain structure, we paired high-throughput single-nucleus RNA sequencing with Slide-seq, a recently developed spatial transcriptomics method with near-cellular resolution, across the entire mouse brain.
- Jonah Langlieb
- , Nina S. Sachdev
- & Evan Z. Macosko
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Article
| Open AccessSlide-tags enables single-nucleus barcoding for multimodal spatial genomics
Slide-tags enables multiomic sequencing of single cells and their localization within tissues.
- Andrew J. C. Russell
- , Jackson A. Weir
- & Fei Chen
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Article |
Base-editing mutagenesis maps alleles to tune human T cell functions
Massive-scale mutational screening across 385 genes reveals a wide spectrum of alleles that govern tunable T cell functions, including cytokine production and cytotoxicity.
- Ralf Schmidt
- , Carl C. Ward
- & Alexander Marson
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Article
| Open AccessCell-type-directed design of synthetic enhancers
Deep learning models were used to design synthetic cell-type-specific enhancers that work in fruit fly brains and human cell lines, an approach that also provides insights into these gene regulatory elements.
- Ibrahim I. Taskiran
- , Katina I. Spanier
- & Stein Aerts
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News & Views |
An expanded genomic database for identifying disease-related variants
An expanded version of a human-genome database called gnomAD, containing 76,156 whole-genome sequences, has enabled investigation of how variants in non-protein-coding regions of the genome affect health.
- Ryan S. Dhindsa
- & Slavé Petrovski
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Article
| Open AccessA human embryonic limb cell atlas resolved in space and time
Using single-cell and spatial transcriptomics, human embryonic limb development across space and time and the diversification and cross-species conservation of cells are demonstrated.
- Bao Zhang
- , Peng He
- & Sarah A. Teichmann
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News |
Tiny robots made from human cells heal damaged tissue
The ‘anthrobots’ were able to repair a scratch in a layer of neurons in the lab.
- Matthew Hutson
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Article
| Open AccessIdentification of constrained sequence elements across 239 primate genomes
Whole-genome alignment of 239 primate species reveals noncoding regulatory elements that are under selective constraint in primates but not in other placental mammals, that are enriched for variants that affect human gene expression and complex traits in diseases.
- Lukas F. K. Kuderna
- , Jacob C. Ulirsch
- & Kyle Kai-How Farh
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News & Views |
Ancient DNA uncovers past migrations in California
Genomic data from ancient humans who lived up to 7,400 years ago, sampled from across California and Mexico, unveil patterns of migration that could explain how some Indigenous languages spread in parts of North America.
- Alan Izarraras-Gomez
- & Diego Ortega-Del Vecchyo
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World View |
Only 0.5% of neuroscience studies look at women’s health. Here’s how to change that
A new initiative challenges the severe neglect of women’s brain health from puberty through to pregnancy and menopause.
- Emily G. Jacobs
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News |
Massive genetic study finds genes linked to cannabis addiction
Data from more than one million genomes offer fresh insights into excessive cannabis use and its relationship to other diseases.
- Lilly Tozer
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Article
| Open AccessSingle-cell, whole-embryo phenotyping of mammalian developmental disorders
A study reports single-cell RNA-sequencing profiles for more than 1.6 million cell nuclei from 101 whole mouse embryos including 22 mutant and 4 wild-type genotypes, from one experiment.
- Xingfan Huang
- , Jana Henck
- & Malte Spielmann
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Article
| Open AccessEmbryo-scale reverse genetics at single-cell resolution
We present the ‘zebrafish single-cell atlas of perturbed embryos’, single-cell trancriptomic data of developing zebrafish embryos across various timepoints and with genetic perturbations.
- Lauren M. Saunders
- , Sanjay R. Srivatsan
- & Cole Trapnell
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News |
AI that reads brain scans shows promise for finding Alzheimer’s genes
Machine-learning approach detects Alzheimer’s disease with an accuracy of more than 90% — a potential boon for clinicians and scientists developing treatments.
- Max Kozlov
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News |
Engineered yeast breaks new record: a genome with over 50% synthetic DNA
Highly edited strain survives and replicates despite containing 7.5 artificial chromosomes.
- Katherine Bourzac
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News |
How to keep wildcats wild: ancient DNA offers fresh insights
Ancient-genomics studies are boosting efforts to save Scotland’s endangered ‘Highland tigers’ — and keep them separate from domestic cats.
- Ewen Callaway
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Research Highlight |
Woolly-rhino genome emerges from cave hyena’s fossilized poo
Analysis shows that the now-extinct beast split into two populations almost half a million years ago.
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Research Briefing |
Genome rewriting generates mouse models of human diseases
Many human diseases lack accurate mouse models because it is technically difficult to create extensively genetically humanized mice. A technique that allows large stretches of DNA to be rapidly rewritten in mouse embryonic stem cells can be used to produce improved animal models.
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News & Views |
Anti-COVID drug accelerates viral evolution
Molnupiravir, an antiviral drug used to treat COVID-19, induces numerous mutations in the SARS-CoV-2 genome that can increase the rate at which the virus evolves — yielding viral variants that might survive and be passed on.
- Sergei L. Kosakovsky Pond
- & Darren Martin
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Research Highlight |
Ancient DNA reveals traces of elusive first humans in Europe
Europe’s earliest Homo sapiens seemed to have vanished without a genetic legacy — but genomic studies now show otherwise.
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News |
Mysterious mouse mummies found atop lofty volcanoes
Naturally freeze-dried leaf-eared mice found above 6,000 metres show mammals can dwell at extraordinary heights.
- Anil Oza
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Editorial |
How to share data — not just equally, but equitably
Just as with many natural resources, wealthy countries have been extracting scientific data from poorer nations for centuries. Researchers are changing that.
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Career Column |
Methods section too short? Use online protocols to make complex techniques understandable
New wet-lab methods can be hard to share owing to their complexity, but with a little extra effort, you can give users a leg-up in getting started.
- Lars Borm
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News |
This is the largest map of the human brain ever made
Researchers catalogue more than 3,000 different types of cell in our most complex organ.
- Gemma Conroy
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Article
| Open AccessMexican Biobank advances population and medical genomics of diverse ancestries
Nationwide genomic biobank in Mexico unravels demographic history and complex trait architecture from 6,057 individuals.
- Mashaal Sohail
- , María J. Palma-Martínez
- & Andrés Moreno-Estrada
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Research Highlight |
How carrots became orange: genomics get at the root of the matter
The vegetable was domesticated roughly 1,200 years ago but was yellow or purple for centuries.
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Career Column |
Embracing the command line: my unexpected career in computational biology
A crash course in bioinformatics put Ming Tommy Tang on a different path.
- Ming Tommy Tang
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Career Guide |
How to spice up your bioinformatics skill set with AI
Incorporating machine-learning tools into data analysis can accelerate discovery and free up valuable time.
- Rachael Pells
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Perspective |
The status of the human gene catalogue
Although the catalogue of human protein-coding genes is nearing completion, the number of non-coding RNA genes remains highly uncertain, and for all genes much work remains to be done to understand their functions.
- Paulo Amaral
- , Silvia Carbonell-Sala
- & Steven L. Salzberg
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Article
| Open AccessRare variant associations with plasma protein levels in the UK Biobank
A set of three papers in Nature reports a new proteomics resource from the UK Biobank and initial analysis of common and rare genetic variant associations with plasma protein levels.
- Ryan S. Dhindsa
- , Oliver S. Burren
- & Slavé Petrovski
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Nature Podcast |
Astronomers are worried by a satellite brighter than most stars
Researchers determined the telecommunications satellite was periodically brighter than 99% of stars, and powerful X-rays have uncovered an ancient trilobite’s last meal.
- Benjamin Thompson
- & Nick Petrić Howe
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Article
| Open AccessSpatial atlas of the mouse central nervous system at molecular resolution
In situ spatial transcriptomic analysis of more than 1 million cells are used to create a 200-nm-resolution spatial molecular atlas of the adult mouse central nervous system and identify previously unknown tissue architectures.
- Hailing Shi
- , Yichun He
- & Xiao Wang