Featured
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News |
AlphaFold tool pinpoints protein mutations that cause disease
Researchers have adapted the AI network to search for genetic changes linked to ill health.
- Ewen Callaway
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Book Review |
Geneticist J. Craig Venter: ‘I consider retirement tantamount to death’
The human genome ‘maverick’ talks sequencing the ocean, setting up a health-screening company after checking his own genes — and why he has no plans to stop.
- Heidi Ledford
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News |
Super-precise CRISPR tool enters US clinical trials for the first time
Base editing, which makes specific changes to a cell’s genome, is put to the test in CAR-T-cell treatments for leukaemia.
- Heidi Ledford
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News Feature |
A DIY ‘bionic pancreas’ is changing diabetes care — what's next?
A community of people with type 1 diabetes got a self-built device approved. What can they offer that big companies can’t?
- Liam Drew
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News |
Most rare kākāpō parrots have had their genome sequenced
DNA from more than 100 of the critically endangered birds could help to save the species from extinction.
- Katharine Sanderson
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Article |
The complete sequence of a human Y chromosome
We present the complete 62,460,029-base-pair sequence of a human Y chromosome from the HG002 genome (T2T-Y) that corrects multiple errors in GRCh38-Y and adds over 30 million base pairs of sequence to the reference.
- Arang Rhie
- , Sergey Nurk
- & Adam M. Phillippy
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Article |
Assembly of 43 human Y chromosomes reveals extensive complexity and variation
De novo assemblies of 43 Y chromosomes spanning 182,900 years of human evolution reveal considerable diversity in the size and structure of the human Y chromosome.
- Pille Hallast
- , Peter Ebert
- & Charles Lee
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Technology Feature |
The quest to map the mouse brain
By combining single-cell sequencing with methods to map the spatial location of gene expression, scientists are unravelling the extraordinary cellular diversity of the brain.
- Diana Kwon
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News |
Ötzi the Iceman has a new look: balding and dark-skinned
Improved DNA analysis updates thinking on alpine mummy’s skin colour, ancestry and more.
- Freda Kreier
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Article
| Open AccessLong-molecule scars of backup DNA repair in BRCA1- and BRCA2-deficient cancers
Linked-read whole-genome sequencing reveals patterns of structural DNA variants that are specific to homologous recombination deficiency and can be used to distinguish between BRCA1- and BRCA2-deficient phenotypes.
- Jeremy Setton
- , Kevin Hadi
- & Marcin Imieliński
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Research Briefing |
Insights into different populations’ immune responses to SARS-CoV-2 infection
Analysis of immune responses to SARS-CoV-2 at single-cell resolution reveals marked differences across human populations that are caused by previous infections and genetic variation. Natural selection and past reproduction with Neanderthals contributed to these differing immune responses and disparities in COVID-19 risk.
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Research Briefing |
Evolutionary history of world’s oldest domesticated crop
High-quality reference genomes of einkorn wheat, the world’s first domesticated crop, have now been sequenced. The contiguous wheat genome assemblies include gap-free centromeres (parts of the chromosome that are crucial for cell division). The genomes shed light on the evolution of einkorn wheat and provide opportunities for improving wheat and other cereals.
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Research Briefing |
Variation in African genomes linked to control of HIV
Genomic analyses of individuals living with HIV-1 revealed a region in chromosome 1 that is associated with reduced viral loads specifically in populations with African ancestry. This could point to much-needed therapeutic targets to address the global public-health crisis caused by HIV-1.
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Article
| Open AccessEinkorn genomics sheds light on history of the oldest domesticated wheat
Around 1% of the A subgenome of modern bread wheat (Triticum aestivum) originates from einkorn (Triticum monococcum), the first domesticated wheat species.
- Hanin Ibrahim Ahmed
- , Matthias Heuberger
- & Simon G. Krattinger
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News |
Seven generations of a prehistoric family mapped with ancient DNA
Unprecedented genealogical tree reveals details of prehistoric social relationships.
- Ewen Callaway
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Correspondence |
Pangenomics: prioritize diversity in collaborations
- Mildred K. Cho
- , Stephanie Malia Fullerton
- & Jenny Reardon
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News |
Short arms and lanky legs: the genetic basis of walking on two legs
Genome-wide map reveals regions associated with skeletal changes that enabled humans to walk upright.
- Dyani Lewis
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News & Views |
Cell-level reference maps for the human body take shape
The HuBMAP consortium has generated spatially resolved cell atlases for the human intestine, kidney and placenta, which enable analysis of tissue organization in unprecedented detail.
- Roser Vento-Tormo
- & Roser Vilarrasa-Blasi
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News |
Cell ‘atlases’ offer unprecedented view of placenta, intestines and kidneys
Organ mapping studies show how kidney cells become diseased, and how cells from a fetus invade and remodel blood vessels in the lining of the uterus.
- Heidi Ledford
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Article
| Open AccessEarly contact between late farming and pastoralist societies in southeastern Europe
Archaeogenetic analysis of 135 individuals from the zone between southeastern Europe and the northwestern Black Sea region indicates contacts between farming and pastoralist populations at the end of the Copper Age.
- Sandra Penske
- , Adam B. Rohrlach
- & Wolfgang Haak
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Correspondence |
Biodiversity: an atlas of European reference genomes
- Camila J. Mazzoni
- , Claudio Ciofi
- & Robert M. Waterhouse
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Article
| Open AccessEvolution of a minimal cell
An engineered minimal cell evolves to escape the negative consequences of genome streamlining.
- R. Z. Moger-Reischer
- , J. I. Glass
- & J. T. Lennon
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Article |
Continuous synthesis of E. coli genome sections and Mb-scale human DNA assembly
BAC stepwise insertion synthesis (BASIS) can be used to build synthetic genomes for diverse organisms, and continuous genome synthesis (CGS) enables the rapid synthesis of entire Escherichia coli genomes from functional designs.
- Jérôme F. Zürcher
- , Askar A. Kleefeldt
- & Jason W. Chin
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News |
Hunter-gatherer lifestyle fosters thriving gut microbiome
Samples from the Tanzanian Hadza group included species previously unknown to science.
- Gemma Conroy
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Research Briefing |
A pangenome reference representative of 36 minority Chinese ethnic groups
In the first phase of its project to produce a genome reference that represents the genetic diversity of the people of China, the Chinese Pangenome Consortium analyse genomic sequences from 58 individuals representing 36 minority ethnic groups in China. The data capture genomic variability that is not currently reflected in human reference genomes.
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Article
| Open AccessA pangenome reference of 36 Chinese populations
A study reports data from the first phase of the Chinese Pangenome Consortium including 116 de novo assemblies from 58 core samples representing 36 minority Chinese ethnic groups.
- Yang Gao
- , Xiaofei Yang
- & Shuhua Xu
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News |
Have a high-pitched voice? It might be in your genes
Survey of nearly 13,000 Icelanders pinpoints for the first time a genetic variant that shapes whether a person’s voice sounds high.
- Freda Kreier
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News |
‘Science was heard’: woman who was convicted of killing her children pardoned after inquiry
Kathleen Folbigg, who was jailed in Australia in 2003 over the sudden deaths of her four young children, has been pardoned and released in the wake of new scientific evidence.
- Dyani Lewis
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News |
Accidental DNA collection by air sensors could revolutionize wildlife tracking
Filters at air-pollution monitoring stations trap DNA from a multitude of flora and fauna, researchers find.
- Natasha Gilbert
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News |
Biggest ever study of primate genomes has surprises for humanity
Genomes of humans’ closest relatives provide insight for conservation, human disease and the origins of social structures.
- Dyani Lewis
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News & Views |
Patterns of tumour transcriptional variability
The compilation and analysis of a compendium of single-cell RNA-sequencing studies across various cancers reveals recurring gene-expression programs that underpin tumour heterogeneity.
- Raymond W. S. Ng
- & Sydney M. Shaffer
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News |
Human-evolution story rewritten by fresh data and more computing power
Humans did not emerge from a single region of Africa, suggests a powerful modelling study. Rather, our ancestors moved and intermingled for millennia.
- Jude Coleman
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Research Briefing |
Chromosomal comparisons reveal comb jellies as the sister group to all other animals
Analyses of chromosome organization across diverse animals and non-animals provide evidence that a group of marine creatures called ctenophores, or comb jellies, are the sister clade of all other animals, bringing to bear new methods to answer a long-standing evolutionary question.
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News |
Why is COVID life-threatening for some people? Genetics study offers clues
Immune genes could play a part in the risk of needing intensive care when infected with SARS-CoV-2.
- Heidi Ledford
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Article
| Open AccessAncient gene linkages support ctenophores as sister to other animals
Deeply conserved syntenic characters unite sponges with bilaterians, cnidarians, and placozoans in a monophyletic clade to the exclusion of the comb jellies (ctenophores)—placing ctenophores as the sister group to all other animals.
- Darrin T. Schultz
- , Steven H. D. Haddock
- & Daniel S. Rokhsar
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Article |
Cycles of satellite and transposon evolution in Arabidopsis centromeres
Inter- and intra-species comparison of Arabidopsis centromere variation identifies rapid cycles of transposon invasion and purging through satellite homogenization that drive centromere evolution.
- Piotr Wlodzimierz
- , Fernando A. Rabanal
- & Ian R. Henderson
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Research Highlight |
Guide to potato genome could make for a bigger spud crop
A genetic manual for the nightshade family, which includes the potato, could help breeders choose the best plants.
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News & Views Forum |
Human pangenome supports analysis of complex genomic regions
A pangenome is a collection of DNA sequences that reveals genetic variation between individuals. Four scientists discuss the generation of a human pangenome, and what insights can be gained from it.
- Arya Massarat
- , Melissa Gymrek
- & Hákon Jónsson
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News |
First human ‘pangenome’ aims to catalogue genetic diversity
Researchers release draft results from an ongoing effort to capture the entirety of human genetic variation.
- Layal Liverpool
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Nature Podcast |
‘Pangenome’ aims to capture the breadth of human diversity
Mapping a more diverse human genome, and the latest from the Nature Briefing.
- Nick Petrić Howe
- & Shamini Bundell
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Article
| Open AccessA draft human pangenome reference
An initial draft of the human pangenome is presented and made publicly available by the Human Pangenome Reference Consortium; the draft contains 94 de novo haplotype assemblies from 47 ancestrally diverse individuals.
- Wen-Wei Liao
- , Mobin Asri
- & Benedict Paten
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Article
| Open AccessWidespread somatic L1 retrotransposition in normal colorectal epithelium
This study illustrates long interspersed nuclear element-1 retrotransposition-induced somatic mosaicism in normal cells and provides insights into the genomic and epigenomic regulation of transposable elements over the human lifetime.
- Chang Hyun Nam
- , Jeonghwan Youk
- & Young Seok Ju
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Article
| Open AccessIncreased mutation and gene conversion within human segmental duplications
A study comparing the pattern of single-nucleotide variation between unique and duplicated regions of the human genome shows that mutation rate and interlocus gene conversion are elevated in duplicated regions.
- Mitchell R. Vollger
- , Philip C. Dishuck
- & Evan E. Eichler
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Article
| Open AccessRecombination between heterologous human acrocentric chromosomes
Comparisons within the human pangenome establish that homologous regions on short arms of heterologous human acrocentric chromosomes actively recombine, leading to the high rate of Robertsonian translocation breakpoints in these regions.
- Andrea Guarracino
- , Silvia Buonaiuto
- & Erik Garrison
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News |
Wuhan market samples fail to shed further light on COVID origins
New analysis of genomic data from market swabs highlights their limitations.
- Dyani Lewis
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News Feature |
GISAID in crisis: can the controversial COVID genome database survive?
The most popular repository for sharing SARS-CoV-2 sequence data has come under increasing scrutiny. Scientists and funders around the world must now consider what lies ahead for the open sharing of genome data.
- Mariana Lenharo
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News |
Prehistoric pendant’s DNA reveals the person who held it
An innovative method reveals that an ancient trinket was handled by a woman some 20,000 years ago.
- Elissa Welle
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Correspondence |
African American genomes don’t capture Africa’s genetic diversity
- Segun Fatumo
- & Ananyo Choudhury
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Career Column |
Why it’s worth making computational methods easy to use
Jean Fan and her team launched a digital campaign using YouTube, GitHub and blogs to make a computational-biology tool accessible to all. Here’s what they learnt.
- Jean Fan