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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
| Open AccessERα-associated translocations underlie oncogene amplifications in breast cancer
An analysis of 780 breast cancer genomes shows that focal amplifications are frequently preceded by dicentric chromosome formation from inter-chromosomal translocations associated with oestrogen receptor binding, which leads to chromosome bridge formation and breakage, initiating the amplification process.
- Jake June-Koo Lee
- , Youngsook Lucy Jung
- & Peter J. Park
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Article
| Open AccessGWAS and meta-analysis identifies 49 genetic variants underlying critical COVID-19
An analysis of 24,202 critical cases of COVID-19 identifies potentially druggable targets in inflammatory signalling (JAK1), monocyte–macrophage activation and endothelial permeability (PDE4A), immunometabolism (SLC2A5 and AK5), and host factors required for viral entry and replication (TMPRSS2 and RAB2A).
- Erola Pairo-Castineira
- , Konrad Rawlik
- & J. Kenneth Baillie
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News |
How one man’s rare Alzheimer’s mutation delayed the onset of disease
Genetic resilience found in a person predisposed to early-onset dementia could potentially lead to new treatments.
- Sara Reardon
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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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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 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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News |
First UK children born using three-person IVF: what scientists want to know
British fertility regulator reveals that at least one child has been born using mitochondrial replacement therapy, but details are scant.
- Ewen Callaway
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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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News Feature |
Human embryo science: can the world’s regulators keep pace?
Concerned by the speed of research, policymakers are looking for alternative ways to establish rules on genome editing and other technologies.
- Philip Ball
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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 AccessMitotic clustering of pulverized chromosomes from micronuclei
The CIP2A–TOPBP1 complex tethers fragmented chromosomes from micronuclei for asymmetric mitotic inheritance, explaining distinct patterns of chromosome rearrangements in cancers and genomic disorders.
- Yu-Fen Lin
- , Qing Hu
- & Peter Ly
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Article
| Open AccessPan-cancer whole-genome comparison of primary and metastatic solid tumours
The genomic differences between primary and metastatic tumours are assessed across 23 cancer types using pan-cancer whole-genome analysis.
- Francisco Martínez-Jiménez
- , Ali Movasati
- & Arne Van Hoeck
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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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Research Briefing |
Ancient woman’s DNA recovered from a 20,000-year-old pendant
An innovative method was used to obtain a woman’s rich DNA record from a 20,000-year-old pendant found in Siberia, providing the first direct genetic evidence for the identity of an individual who handled an object in the deep past.
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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
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News |
Huge cache of mammal genomes offers fresh insights on human evolution
The Zoonomia Project is helping to pinpoint genes responsible for animal-brain size and for human disease.
- Max Kozlov
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Editorial |
The gene-therapy revolution risks stalling if we don’t talk about drug pricing
Regulation and new intellectual property laws are needed to reduce the cost of gene-editing treatments and fulfil their promise to improve human health.
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News |
‘Truly gobsmacked’: Ancient-human genome count surpasses 10,000
The majority of sequences come from people who lived in Western Eurasia, but samples from other regions are on the rise.
- Ewen Callaway
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News |
Genetic map of Tasmanian devil cancers hints at their future evolution
Most detailed analysis yet pinpoints the contagious tumours’ origins.
- Gemma Conroy
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Matters Arising |
Insufficient evidence for non-neutrality of synonymous mutations
- Leonid Kruglyak
- , Andreas Beyer
- & Craig D. Kaplan
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Nature Podcast |
A smarter way to melt down plastics?
Repeated flash-heating provides a new way to depolymerize plastics, and the latest from the Nature Briefing.
- Benjamin Thompson
- & Shamini Bundell
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Technology Feature |
Every base everywhere all at once: pangenomics comes of age
Multi-genome assemblies called pangenomes can capture genetic diversity in a species, but researchers are still working out how best to build and explore them.
- Michael Eisenstein
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News |
How a rural school teacher became a top COVID sleuth
A self-taught Indiana man is among a cadre of community scientists who scour the SARS-CoV-2 genome for problematic mutations.
- Max Kozlov
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News & Views |
Africa-led group generates lablab crop genome
Lablab is a key crop in the tropics. A high-quality genome sequence for the plant, produced in Kenya, provides insights that could boost breeding programmes and pave the way for more African crops to be sequenced in African laboratories.
- Damaris A. Odeny
- & Molly A. Okoth
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News |
Ageing studies in five animals suggest how to reverse decline
Smoothing the speed bumps in an important cellular pathway seems to be implicated in ageing.
- Gemma Conroy
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News & Views |
Genome reveals how the skate got its wings
Genome sequencing, combined with methods for deducing how genomic regions interact, have now provided insight into how the wings that give skates and rays their characteristic shapes evolved more than 200 million years ago.
- Chris Amemiya
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Article |
Aberrant activation of TCL1A promotes stem cell expansion in clonal haematopoiesis
Using data from a single time point, passenger-approximated clonal expansion rate (PACER) estimates the fitness of common driver mutations that lead to clonal haematopoiesis and identifies TCL1A activation as a mediator of clonal expansion.
- Joshua S. Weinstock
- , Jayakrishnan Gopakumar
- & Siddhartha Jaiswal
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Article
| Open AccessGenomic–transcriptomic evolution in lung cancer and metastasis
Computational and machine-learning approaches that integrate genomic and transcriptomic variation from paired primary and metastatic non-small cell lung cancer samples from the TRACERx cohort reveal the role of transcriptional events in tumour evolution.
- Carlos Martínez-Ruiz
- , James R. M. Black
- & Nicholas McGranahan
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Article |
Clonal haematopoiesis and risk of chronic liver disease
A study shows that clonal haematopoiesis of indeterminate potential is associated with an increased risk of chronic liver disease specifically through the promotion of liver inflammation and injury.
- Waihay J. Wong
- , Connor Emdin
- & Pradeep Natarajan
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Article
| Open AccessThe little skate genome and the evolutionary emergence of wing-like fins
Skate-specific changes in the epigenome and its three-dimensional organization contributed to the evolution of the batoid fin morphology.
- Ferdinand Marlétaz
- , Elisa de la Calle-Mustienes
- & José Luis Gómez-Skarmeta
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Article
| Open AccessThe evolution of non-small cell lung cancer metastases in TRACERx
A longitudinal evolutionary analysis of 126 lung cancer patients with metastatic disease reveals the timing of metastatic divergence, modes of dissemination and the genomic events subject to selection during the metastatic transition.
- Maise Al Bakir
- , Ariana Huebner
- & Charles Swanton
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Article
| Open AccessAgeing-associated changes in transcriptional elongation influence longevity
Increases in transcriptional elongation speed with age affect organismal lifespan and ageing-related changes could be reversed with lifespan-extending interventions.
- Cédric Debès
- , Antonios Papadakis
- & Andreas Beyer
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News |
How air pollution causes lung cancer — without harming DNA
Studies in mice suggest that tumour growth is triggered by inflammation caused by tiny particles, rather than genetic mutations.
- Heidi Ledford
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Article |
Large-scale mapping and mutagenesis of human transcriptional effector domains
A high throughput recruitment assay testing the transcriptional activity of more than 100,000 protein fragments tiling across most human chromatin regulators and transcription factors maps the locations and strengths of activation, repression and bifunctional domains, and identifies the sequences necessary for these functions.
- Nicole DelRosso
- , Josh Tycko
- & Lacramioara Bintu
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Article |
Lung adenocarcinoma promotion by air pollutants
Combination of epidemiology, preclinical models and ultradeep DNA profiling of clinical cohorts unpicks the inflammatory mechanism by which air pollution promotes lung cancer
- William Hill
- , Emilia L. Lim
- & Charles Swanton
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Research Highlight |
Hello, baby: genes involved in timing of birth are identified
Some genes that influence the length of a pregnancy also hold sway over fetal growth rates.
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News |
Ancient DNA illuminates Swahili culture’s origins
Genomes uncovered from centuries-old East African towns revise conclusions of colonial science.
- Ewen Callaway
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Article |
Adeno-associated virus 2 infection in children with non-A–E hepatitis
A case–control study investigating the causes of recent cases of acute hepatitis of unknown aetiology in 32 children identifies an association between adeno-associated virus infection and host genetics in disease susceptibility.
- Antonia Ho
- , Richard Orton
- & Emma C. Thomson
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Article |
Adeno-associated virus type 2 in US children with acute severe hepatitis
A retrospective analysis using PCR testing, viral enrichment-based sequencing and agnostic metagenomic sequencing finds an association between adeno-associated virus type 2 and paediatric hepatitis of unknown cause.
- Venice Servellita
- , Alicia Sotomayor Gonzalez
- & Charles Y. Chiu
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Article |
An atlas of genetic scores to predict multi-omic traits
A machine learning approach is used to analyse multi-omics (proteomics, metabolomics and transcriptomics) data, producing genetic scores for more than 17,000 biomolecular traits in human blood, and identifying possible associations with disease.
- Yu Xu
- , Scott C. Ritchie
- & Michael Inouye
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Research Briefing |
Genome-based scores predict thousands of molecular traits in humans
Genetic scores for predicting levels of several types of biomolecule have been developed and validated in people of diverse ancestries, and used to uncover insights into disease biology. An open resource to disseminate these scores, OmicsPred, will enable researchers to predict various molecular traits from genetic profiles in their own data sets.
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Research Briefing |
Medieval Swahili people had both African and Asian ancestry
Analyses of ancient DNA from 80 individuals buried in medieval Swahili stone towns along the East African coast revealed that these individuals had both African and Asian ancestry. The findings suggest that in most cases, African women began having children with Asian men at least 1,000 years ago, at several locations along the coast.
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