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Polygenic architecture of rare coding variation across 394,783 exomes
An analysis of rare coding variants across 22 common traits and diseases indicates that these variants will contribute substantially to biological insights but modestly to population risk stratification.
- Daniel J. Weiner
- , Ajay Nadig
- & Luke J. O’Connor
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Single-cell eQTL models reveal dynamic T cell state dependence of disease loci
A single-cell Poisson model is used to analyse eQTLs in memory T cells across continuous, dynamic cell states, revealing that the cell context is critical to understanding variation in eQTLs and their association with disease.
- Aparna Nathan
- , Samira Asgari
- & Soumya Raychaudhuri
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Article |
A species-level timeline of mammal evolution integrating phylogenomic data
Bayesian analysis of datasets comprising genomes from multiple mammalian species can efficiently and precisely decipher their evolutionary timeline.
- Sandra Álvarez-Carretero
- , Asif U. Tamuri
- & Mario dos Reis
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Article |
Paths and timings of the peopling of Polynesia inferred from genomic networks
Analysis of genomic networks from 430 modern individuals across 21 Pacific island populations reveals the human settlement history of Polynesia.
- Alexander G. Ioannidis
- , Javier Blanco-Portillo
- & Andrés Moreno-Estrada
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Article |
Patterns of de novo tandem repeat mutations and their role in autism
A bioinformatics pipeline to identify tandem repeat mutations is developed and used to characterize precise changes in repeat copy number associated with autism spectrum disorder.
- Ileena Mitra
- , Bonnie Huang
- & Melissa Gymrek
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Matters Arising |
Reply to: The effect of interventions on COVID-19
- Seth Flaxman
- , Swapnil Mishra
- & Samir Bhatt
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Article |
Age-specific mortality and immunity patterns of SARS-CoV-2
The relative risk of COVID-19-associated death for younger individuals (under 65) is consistent across countries and can be used to robustly compare the underlying number of infections in each country.
- Megan O’Driscoll
- , Gabriel Ribeiro Dos Santos
- & Henrik Salje
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Article |
Evidence for 28 genetic disorders discovered by combining healthcare and research data
By integrating healthcare and exome-sequencing data from parent–offspring trios of patients with developmental disorders, 28 genes that had not previously been associated with developmental disorders were identified.
- Joanna Kaplanis
- , Kaitlin E. Samocha
- & Kyle Retterer
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Article |
Native American gene flow into Polynesia predating Easter Island settlement
Genomic analyses of DNA from modern individuals show that, about 800 years ago, pre-European contact occurred between Polynesian individuals and Native American individuals from near present-day Colombia, while remote Pacific islands were still being settled.
- Alexander G. Ioannidis
- , Javier Blanco-Portillo
- & Andrés Moreno-Estrada
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Article |
Decoding human fetal liver haematopoiesis
Single-cell transcriptomic profiling of fetal liver, skin, kidney and yolk sac reveals the differentiation trajectories of human haematopoietic stem cells and multipotent progenitors, which are validated to produce an integrated map of fetal liver haematopoiesis.
- Dorin-Mirel Popescu
- , Rachel A. Botting
- & Muzlifah Haniffa
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Letter |
Dynamics of breast-cancer relapse reveal late-recurring ER-positive genomic subgroups
A statistical framework for breast-cancer recurrence uses long-term follow-up data and a knowledge of molecular subcategories to model distinct disease stages and to predict the risk of relapse.
- Oscar M. Rueda
- , Stephen-John Sammut
- & Christina Curtis
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Article |
Insights into clonal haematopoiesis from 8,342 mosaic chromosomal alterations
Analysis of genotyping data for more than 150,000 individuals from the UK Biobank using long-range phase information sheds light on mechanisms of clonal haematopoiesis.
- Po-Ru Loh
- , Giulio Genovese
- & Alkes L. Price
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Article |
Renewing Felsenstein’s phylogenetic bootstrap in the era of big data
A new version of the phylogenetic bootstrap method enables assessment of the robustness of phylogenies that are based on large datasets of hundreds or thousands of taxa.
- F. Lemoine
- , J.-B. Domelevo Entfellner
- & O. Gascuel
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Brief Communications Arising |
Can we predict protein from mRNA levels?
- Nikolaus Fortelny
- , Christopher M. Overall
- & Gabriela V. Cohen Freue
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Brief Communications Arising |
Is there evidence for a limit to human lifespan?
- Maarten P. Rozing
- , Thomas B. L. Kirkwood
- & Rudi G. J. Westendorp
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Article |
Fine-mapping inflammatory bowel disease loci to single-variant resolution
Results of fine-mapping 94 inflammatory bowel disease loci using high-density genotyping in 67,852 individuals and several new fine-mapping methods.
- Hailiang Huang
- , Ming Fang
- & Jeffrey C. Barrett
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Letter |
Identifying specificity groups in the T cell receptor repertoire
The authors devise an algorithm that can cluster T cell receptor (TCR) sequences sharing the same specificity, predict the HLA restriction of these TCR clusters on the basis of subjects’ genotypes and help to identify specific peptide major histocompatibility complex ligands.
- Jacob Glanville
- , Huang Huang
- & Mark M. Davis
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Article |
Virus genomes reveal factors that spread and sustained the Ebola epidemic
Frequent dispersal and short-lived local transmission clusters fuelled the 2013–2016 Ebola virus epidemic in Guinea, Liberia and Sierra Leone.
- Gytis Dudas
- , Luiz Max Carvalho
- & Andrew Rambaut
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Letter |
The global distribution and burden of dengue
The public health burden of dengue is unknown; here cartographic approaches are used to provide insight into the global, regional and national burden of dengue, with the finding that the global number of infections per year is around 390 million, more than three times the estimate of the World Health Organization.
- Samir Bhatt
- , Peter W. Gething
- & Simon I. Hay
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News |
Tangled relationships unpicked
A statistical method discovers hidden correlations in complex data.
- Philip Ball
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Research Highlights |
Ten thousand Kims of Korea
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News |
Home-birth study investigated
Criticism led journal to re-examine controversial paper that found higher death rate in babies born at home.
- Erika Check Hayden
Polygenic scoring accuracy varies across the genetic ancestry continuum