Featured
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Nature Video |
Building a heart atlas: researchers map organ in stunning detail
Cutting edge imaging techniques reveal how cells organise as the heart develops.
- Dan Fox
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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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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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Article |
A genomic mutational constraint map using variation in 76,156 human genomes
A genomic constraint map for the human genome constructed using data from 76,156 human genomes from the Genome Aggregation Database shows that non-coding constrained regions are enriched for regulatory elements and variants associated with complex diseases and traits.
- Siwei Chen
- , Laurent C. Francioli
- & Konrad J. Karczewski
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Article
| Open Access
Genotyping, sequencing and analysis of 140,000 adults from Mexico City
Genotype and exome sequencing of 150,000 participants and whole-genome sequencing of 9,950 selected individuals recruited into the Mexico City Prospective Study constitute a valuable, publicly available resource of non-European sequencing data.
- Andrey Ziyatdinov
- , Jason Torres
- & Roberto Tapia-Conyer
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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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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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Article
| Open Access
Long-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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News |
This moss survived 165 million years — and now it's under threat from climate change
Ancient plant survived the formation of the Himalayas, but might now be facing extinction.
- Jude Coleman
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News |
Ancient-DNA researcher fired for ‘serious misconduct’ lands new role
Former co-workers have expressed shock that Charles Sturt University in southeastern Australia has appointed Alan Cooper to its faculty.
- Dyani Lewis
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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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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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Obituary |
Paul Berg (1926–2023)
Biochemist who invented recombinant DNA technology.
- Errol Friedberg
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News |
Was famed poet Pablo Neruda poisoned? Scientists warn case not closed
Forensic investigation uncovers evidence that a lethal bacterium could have been in his body when he died.
- Michele Catanzaro
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News |
Dads older than mums since dawn of humanity, study suggests
Scientists used modern human DNA to estimate when new generations were born over 250,000 years — and the age of parents at conception.
- Freda Kreier
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Nature Video |
Record-breaking ancient DNA found in frozen soil
Two-million-year-old DNA from extinct mammals has been sequenced, revealing a lost world in Greenland .
- Shamini Bundell
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Article
| Open Access
The sequences of 150,119 genomes in the UK Biobank
To measure selection on variants, whole-genome sequencing of approximately 150,000 individuals from the UK Biobank is used to rank sequence variants by their level of depletion.
- Bjarni V. Halldorsson
- , Hannes P. Eggertsson
- & Kari Stefansson
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Article |
Somatic mosaicism reveals clonal distributions of neocortical development
A comprehensive analysis of brain somatic mosaicism across the neocortex demonstrates the origins and distribution patterns of cells within the human brain.
- Martin W. Breuss
- , Xiaoxu Yang
- & Joseph G. Gleeson
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Article |
Spatial genomics enables multi-modal study of clonal heterogeneity in tissues
A technique using barcoded beads for DNA sequencing within tissue sections enables spatial resolution of tumour clonal heterogeneity and can be multiplexed with other analytical techniques for analysis of complex cellular phenotypes.
- Tongtong Zhao
- , Zachary D. Chiang
- & Fei Chen
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News & Views |
A massive effort links protein-coding gene variants to health
The protein-coding portions of more than 450,000 individuals’ genomes have been sequenced, and analysed together with the individuals’ health data, revealing rare and common gene variants linked to various health-related traits.
- Yukinori Okada
- & Qingbo S. Wang
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News |
A complete human genome sequence is close: how scientists filled in the gaps
Researchers added 200 million DNA base pairs and 115 protein-coding genes — but they’ve yet to entirely sequence the Y chromosome.
- Sara Reardon
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News |
What scientists know about new, fast-spreading coronavirus variants
Key questions remain about how quickly B.1.617 variants can spread, their potential to evade immunity and how they might affect the course of the pandemic.
- David Adam
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Research Summary |
Mining the gaps of chromosome 8
The first gapless, telomere-to-telomere sequence of a human autosome, chromosome 8, is complete. Sequencing and assembly of the corresponding centromere in the chimpanzee, orangutan and macaque reveals details of its rapid evolution over the past 25 million years.
- Glennis A. Logsdon
- & Evan E. Eichler
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News |
India’s neighbours race to sequence genomes as COVID surges
From Sri Lanka to Nepal, scientists with limited resources are working feverishly to discover which variants are driving outbreaks.
- Smriti Mallapaty
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Article |
Somatic mutation landscapes at single-molecule resolution
NanoSeq is used to detect mutations in single DNA molecules and analyses show that mutational processes that are independent of cell division are important contributors to somatic mutagenesis.
- Federico Abascal
- , Luke M. R. Harvey
- & Iñigo Martincorena
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News |
Why US coronavirus tracking can’t keep up with concerning variants
The country has an enormous virus-sequencing capacity, but funding and coordination roadblocks are holding it back.
- Amy Maxmen
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Article |
Single-cell mutation analysis of clonal evolution in myeloid malignancies
The evolution of myeloid malignancies is investigated using combined single-cell sequencing and immunophenotypic analysis.
- Linde A. Miles
- , Robert L. Bowman
- & Ross L. Levine
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Article
| Open Access
Telomere-to-telomere assembly of a complete human X chromosome
High-coverage, ultra-long-read nanopore sequencing is used to create a new human genome assembly that improves on the coverage and accuracy of the current reference (GRCh38) and includes the gap-free, telomere-to-telomere sequence of the X chromosome.
- Karen H. Miga
- , Sergey Koren
- & Adam M. Phillippy
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Article |
Insights into variation in meiosis from 31,228 human sperm genomes
Thousands of sperm genomes have been analysed with a new method called Sperm-seq, revealing interconnected meiotic variation at the single-cell and person-to-person levels, and suggesting chromosome compaction as a way to explain the relationships between diverse recombination phenotypes.
- Avery Davis Bell
- , Curtis J. Mello
- & Steven A. McCarroll
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News |
Controversial ‘gay gene’ app provokes fears of a genetic Wild West
Debate highlights broader concerns about tools that use the results of direct-to-consumer genetic testing.
- Amy Maxmen
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Letter
| Open Access
Genome sequence of the progenitor of wheat A subgenome Triticum urartu
The genome sequence of Triticum urartu, the progenitor of the A subgenome of hexaploid wheat, provides insight into genome duplication during grass evolution.
- Hong-Qing Ling
- , Bin Ma
- & Chengzhi Liang
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Letter |
Reconstructing the genetic history of late Neanderthals
Genetic similarity among late Neanderthals is predicted well by their geographical location, and although some of these Neanderthals were contemporaneous with early modern humans, their genomes show no evidence of recent gene flow from modern humans.
- Mateja Hajdinjak
- , Qiaomei Fu
- & Janet Kelso
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Letter
| Open Access
The impact of rare variation on gene expression across tissues
The authors show that rare genetic variants contribute to large gene expression changes across diverse human tissues and provide an integrative method for interpretation of rare variants in individual genomes.
- Xin Li
- , Yungil Kim
- & Stephen B. Montgomery
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Article
| Open Access
A chromosome conformation capture ordered sequence of the barley genome
The International Barley Genome Sequencing Consortium reports sequencing and assembly of a reference genome for barley, Hordeum vulgare.
- Martin Mascher
- , Heidrun Gundlach
- & Nils Stein
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Letter |
Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction
Exome sequence analysis of nearly 10,000 people was carried out to identify alleles associated with early-onset myocardial infarction; mutations in low-density lipoprotein receptor (LDLR) or apolipoprotein A-V (APOA5) were associated with disease risk, identifying the key roles of low-density lipoprotein cholesterol and metabolism of triglyceride-rich lipoproteins.
- Ron Do
- , Nathan O. Stitziel
- & Sekar Kathiresan
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Article |
Synaptic, transcriptional and chromatin genes disrupted in autism
Whole-exome sequencing in a large autism study identifies over 100 autosomal genes that are likely to affect risk for the disorder; these genes, which show unusual evolutionary constraint against mutations, carry de novo loss-of-function mutations in over 5% of autistic subjects and many function in synaptic, transcriptional and chromatin-remodelling pathways.
- Silvia De Rubeis
- , Xin He
- & Joseph D. Buxbaum
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News |
Past 5,000 years prolific for changes to human genome
High-resolution sequencing study emphasizes importance of rare variants in disease.
- Nidhi Subbaraman
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Article
| Open Access
Analysis of the bread wheat genome using whole-genome shotgun sequencing
Sequencing of the hexaploid bread wheat genome shows that it is highly dynamic, with significant loss of gene family members on polyploidization and domestication, and an abundance of gene fragments.
- Rachel Brenchley
- , Manuel Spannagl
- & Neil Hall
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News |
DNA sequencers stymie superbug spread
Whole-genome analysis helps identify source of MRSA outbreak on infant ward
- Ewen Callaway
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News Feature |
Genomics: The single life
Sequencing DNA from individual cells is changing the way that researchers think of humans as a whole.
- Brian Owens
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Article
| Open Access
An integrated map of genetic variation from 1,092 human genomes
This report from the 1000 Genomes Project describes the genomes of 1,092 individuals from 14 human populations, providing a resource for common and low-frequency variant analysis in individuals from diverse populations; hundreds of rare non-coding variants at conserved sites, such as motif-disrupting changes in transcription-factor-binding sites, can be found in each individual.
- Gil A. McVean
- , David M. Altshuler (Co-Chair)
- & Gil A. McVean
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News |
Genome interpreter vies for place in clinical market
Launch of system that keeps data local aims to address privacy fears.
- Monya Baker
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News |
Two-day test diagnoses genetic diseases in newborns
Platform could be a model for routine whole-genome sequencing in neonatal intensive care.
- Monya Baker
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News |
New DNA analysis shows ancient humans interbred with Denisovans
A new high-coverage DNA sequencing method reconstructs the full genome of Denisovans — relatives to both Neandertals and humans — from genetic fragments in a single finger bone.
- Katherine Harmon
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Letter |
Defining the core Arabidopsis thaliana root microbiome
Sequencing of the Arabidopsis thaliana root microbiome shows that its composition is strongly influenced by location, inside or outside the root, and by soil type.
- Derek S. Lundberg
- , Sarah L. Lebeis
- & Jeffery L. Dangl
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Letter |
Medulloblastoma exome sequencing uncovers subtype-specific somatic mutations
Medulloblastoma is the most common brain tumour in children; using exome sequencing of tumour samples the authors show that these cancers have low mutation rates and identify 12 significantly mutated genes, among them the gene encoding RNA helicase DDX3X.
- Trevor J. Pugh
- , Shyamal Dilhan Weeraratne
- & Yoon-Jae Cho
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News & Views |
Fetal genes in mother's blood
The genome sequence of a fetus can be inferred from the relative numbers of variants of DNA sequences in a pregnant woman's blood. This advance in non-invasive diagnostics comes with some ramifications. See Article p.320
- Diana W. Bianchi
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Article
| Open Access
Comprehensive molecular characterization of human colon and rectal cancer
The Cancer Genome Atlas consortium reports on their genome-wide characterization of somatic alterations in colorectal cancer; in addition to revealing a remarkably consistent pattern of genomic alteration, with 24 genes being significantly mutated, the study identifies new targets for therapeutic intervention and suggests an important role for MYC-directed transcriptional activation and repression.
- Donna M. Muzny
- , Matthew N. Bainbridge
- & Elizabeth Thomson.
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News Feature |
Microbes en masse: The sequencing machine
Faeces, lizards, keyboards, faces — Rob Knight likes to sequence the microbes on anything and everything. Next, he plans to sequence Earth.
- Virginia Gewin
One year, three researchers, millions of cells: how a small team created the largest mouse-embryo atlas so far