Nature Search

A comprehensive assessment of somatic mutation detection in cancer using whole-genome sequencing

Cancer genetics has benefited from the advent of next generation sequencing, yet a comparison of sequencing and analysis techniques is lacking. Here, the authors sequence a normal-tumour pair and perform data analysis at multiple institutes and highlight some of the pitfalls associated with the different methods.

Tyler S. Alioto
Ivo Buchhalter
Ivo G. Gut
ResearchOpen Access09 Dec 2015
Nature Communications

Volume: 6, P: 1-13
Multiparametric physicochemical analysis of a type 1 collagen 3D cell culture model using light and electron microscopy and mass spectrometry imaging

Camilla Dondi
Dimitrios Tsikritsis
Michael Shaw
ResearchOpen Access20 Mar 2025
Scientific Reports

Volume: 15, P: 1-13
Phosphoproteomics of aged insulin-resistant bone identifies P70S6K phosphorylation of AFF4 as a gene-specific transcriptional regulator

Insulin signaling plays a crucial role in coordinating skeletal development with whole‑body energy metabolism. Here, the authors use phosphoproteomics to show insulin-signaling rewiring in aged, insulin-resistant bone and identify defective phosphorylation of AFF4 as a key mechanism for regulating gene-specific transcriptional activation.

Mriga Dutt
Luoping Liao
Benjamin L. Parker
ResearchOpen Access31 Dec 2025
Nature Communications

Volume: 17, P: 1-23
Palaeometabolomes yield biological and ecological profiles at early human sites

Metabolic and proteomic profiles derived from fossilized skeletal remains of animals enable inferences regarding physiological health and disease as well as diet to provide reconstructions of ancient soil, vegetation and palaeoclimate characteristics.

Timothy G. Bromage
Christiane Denys
Thomas A. Neubert
ResearchOpen Access17 Dec 2025
Nature

Volume: 649, P: 1197-1205
Alteration of archeological and natural analogs for radioactive waste glass under different environmental conditions

Jose Marcial
Julian Chesnutt
Albert A. Kruger
ResearchOpen Access05 Aug 2025
npj Materials Degradation

Volume: 9, P: 1-18
Self-organizing human cardiac microchambers mediated by geometric confinement

Organogenesis is orchestrated by biochemical and biophysical stimuli. Here, Ma et al. generate a micro-patterned surface that provides mechanical cues which, when combined with biochemical signals, drive human pluripotent stem cells’ differentiation into beating cardiac microchambers resembling primitive hearts.

Zhen Ma
Jason Wang
Kevin E. Healy
ResearchOpen Access14 Jul 2015
Nature Communications

Volume: 6, P: 1-10
GWAS 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
ResearchOpen Access17 May 2023
Nature

Volume: 617, P: 764-768
New insights into the Tyrolean Iceman's origin and phenotype as inferred by whole-genome sequencing

The Tyrolean Iceman is 5,300 years old and his mitochondrial genome has been previously sequenced. This study reports the full genome sequence of the Iceman and reveals that he probably had brown eyes, was at risk for coronary disease and may have been infected with the pathogen Lyme borreliosis.

Andreas Keller
Angela Graefen
Albert Zink
ResearchOpen Access28 Feb 2012
Nature Communications

Volume: 3, P: 1-9
Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing

Large genome-wide meta-analysis of clinically diagnosed late-onset Alzheimer’s disease (LOAD) from 94,437 individuals identifies new LOAD risk loci and implicates Aβ formation, tau protein binding, immune response and lipid metabolism.

Brian W. Kunkle
Benjamin Grenier-Boley
Margaret A. Pericak-Vance
Research28 Feb 2019
Nature Genetics

Volume: 51, P: 414-430
Polygenic prediction of body mass index and obesity through the life course and across ancestries

Polygenic scores for body mass index and obesity constructed using data from 5 million people with different ancestries were associated with distinct weight gain trajectories from early childhood to adulthood.

Roelof A. J. Smit
Kaitlin H. Wade
Ruth J. F. Loos
ResearchOpen Access21 Jul 2025
Nature Medicine

Volume: 31, P: 3151-3168
A second update on mapping the human genetic architecture of COVID-19

Masahiro Kanai
Shea J. Andrews
Matthew Solomonson
ResearchOpen Access06 Sept 2023
Nature

Volume: 621, P: E7-E26
A saturated map of common genetic variants associated with human height

A large genome-wide association study of more than 5 million individuals reveals that 12,111 single-nucleotide polymorphisms account for nearly all the heritability of height attributable to common genetic variants.

Loïc Yengo
Sailaja Vedantam
Joel N. Hirschhorn
ResearchOpen Access12 Oct 2022
Nature

Volume: 610, P: 704-712
New insights into the genetic etiology of Alzheimer’s disease and related dementias

Meta-analysis of genome-wide association studies on Alzheimer’s disease and related dementias identifies new loci and enables generation of a new genetic risk score associated with the risk of future Alzheimer’s disease and dementia.

Céline Bellenguez
Fahri Küçükali
Jean-Charles Lambert
ResearchOpen Access04 Apr 2022
Nature Genetics

Volume: 54, P: 412-436
A materials physics perspective on structure–processing–function relations in blends of organic semiconductors

The field of organic electronics has acknowledged that the key to process and device optimization is to elucidate the correlation between the active layer morphology and performance. This Review outlines how this can be achieved using accessible approaches from materials science and classical polymer thermodynamics.

Zhengxing Peng
Natalie Stingelin
Jasper J. Michels
Reviews02 Mar 2023
Nature Reviews Materials

Volume: 8, P: 439-455
Inhibition of IL-11 signalling extends mammalian healthspan and lifespan

IL-11 is identified as a key regulator of ERK–AMPK–mTORC1 signalling, metabolism, inflammation and age-related disease and lifespan in mouse and human.

Anissa A. Widjaja
Wei-Wen Lim
Stuart A. Cook
ResearchOpen Access17 Jul 2024
Nature

Volume: 632, P: 157-165
Does anti-sclerostin therapy promote inflammation in rheumatoid arthritis?

One of the most promising new approaches currently in clinical trials for postmenopausal osteoporosis is the promotion of bone formation by antibodies directed against the Wnt inhibitor, sclerostin. A new study by Wehmeyer and colleagues suggests that this approach might have a pro-inflammatory effect in patients with tumour necrosis factor (TNF)-dependent rheumatoid arthritis.

Natalie A. Sims
News & Views22 Apr 2016
Nature Reviews Endocrinology

Volume: 12, P: 314-316
Author Correction: GWAS and meta-analysis identifies 49 genetic variants underlying critical COVID-19

Erola Pairo-Castineira
Konrad Rawlik
J. Kenneth Baillie
Amendments and CorrectionsOpen Access11 Jul 2023
Nature

Volume: 619, P: E61
Increased autophagy in EphrinB2-deficient osteocytes is associated with elevated secondary mineralization and brittle bone

Osteoblasts mediate bone formation, and their differentiation requires expression of EphrinB2. Here, the authors show that EphrinB2 is also expressed by osteocytes, and that its genetic ablation in mice is associated with altered autophagy, elevated mineralization and brittle bone.

Christina Vrahnas
Martha Blank
Natalie A. Sims
ResearchOpen Access31 Jul 2019
Nature Communications

Volume: 10, P: 1-16
Whole-genome sequencing of a sporadic primary immunodeficiency cohort

Whole-genome sequencing analysis of individuals with primary immunodeficiency identifies new candidate disease-associated genes and shows how the interplay between genetic variants can explain the variable penetrance and complexity of the disease.

James E. D. Thaventhiran
Hana Lango Allen
Kenneth G. C. Smith
Research06 May 2020
Nature

Volume: 583, P: 90-95
Bone corticalization requires local SOCS3 activity and is promoted by androgen action via interleukin-6

The strength of long bones is determined by coalescence of trabeculae during corticalization. Here the authors show that this process is regulated by SOCS3 via a mechanism dependent on IL-6 and expression of sex hormones.

Dae-Chul Cho
Holly J. Brennan
Natalie A. Sims
ResearchOpen Access09 Oct 2017
Nature Communications

Volume: 8, P: 1-13
Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variants

Paul R Burton
David G Clayton
Matthew A Brown
Research21 Oct 2007
Nature Genetics

Volume: 39, P: 1329-1337
Genome-wide detection of tandem DNA repeats that are expanded in autism

Genome-wide analysis of tandem DNA repeats in the genomes of individuals with autism spectrum disorder and control participants reveals a strong contribution of tandem repeat expansions to the genetic aetiology and phenotypic complexity of autism spectrum disorder.

Brett Trost
Worrawat Engchuan
Ryan K. C. Yuen
Research27 Jul 2020
Nature

Volume: 586, P: 80-86
Whole-genome sequencing of patients with rare diseases in a national health system

Whole-genome sequencing and phenotype data sharing are introduced in a national health system to streamline diagnosis and to discover coding and non-coding variants that cause rare diseases.

Ernest Turro
William J. Astle
Willem H. Ouwehand
Research24 Jun 2020
Nature

Volume: 583, P: 96-102
Hematopoietic mosaic chromosomal alterations increase the risk for diverse types of infection

The burden of mosaic chromosomal alterations in blood-derived DNA, a type of clonal hematopoiesis, is associated with an increased risk for diverse types of infections, including sepsis and pneumonia.

Seyedeh M. Zekavat
Shu-Hong Lin
Pradeep Natarajan
Research07 Jun 2021
Nature Medicine

Volume: 27, P: 1012-1024
Author Correction: Increased autophagy in EphrinB2-deficient osteocytes is associated with elevated secondary mineralization and brittle bone

Christina Vrahnas
Martha Blank
Natalie A. Sims
Amendments and CorrectionsOpen Access04 Nov 2019
Nature Communications

Volume: 10, P: 1
Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer’s disease

Multistage gene burden analysis in exome sequencing data from 32,558 individuals identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer’s disease.

Henne Holstege
Marc Hulsman
Jean-Charles Lambert
ResearchOpen Access21 Nov 2022
Nature Genetics

Volume: 54, P: 1786-1794
Overcoming natural Wnt inhibition to optimize therapy

The Wnt signalling pathway is the target of current anabolic therapies for osteoporosis. Studies in 2018 have revealed more about endogenous control of Wnt-related signalling, including mechanisms of natural Wnt inhibition and new anabolic signalling pathways that could be harnessed to overcome the challenges posed by current therapies.

Natalie A. Sims
News & Views04 Jan 2019
Nature Reviews Rheumatology

Volume: 15, P: 67-68
The JAK1/STAT3/SOCS3 axis in bone development, physiology, and pathology

Natalie A. Sims
ReviewsOpen Access13 Aug 2020
Experimental & Molecular Medicine

Volume: 52, P: 1185-1197
Publisher Correction: Whole-genome sequencing of a sporadic primary immunodeficiency cohort

James E. D. Thaventhiran
Hana Lango Allen
Kenneth G. C. Smith
Amendments and Corrections17 Jul 2020
Nature

Volume: 584, P: E2
Author Correction: Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing

Brian W. Kunkle
Benjamin Grenier-Boley
Margaret A. Pericak-Vance
Amendments and Corrections15 Aug 2019
Nature Genetics

Volume: 51, P: 1423-1424
Deciphering the impact of genomic variation on function

The Impact of Genomic Variation on Function Consortium is combining single-cell mapping, genomic perturbations and predictive modelling to investigate relationships between human genomic variation, genome function and phenotypes and will provide an open resource to the community.

Jesse M. Engreitz
Heather A. Lawson
Ella K. Samer
Reviews04 Sept 2024
Nature

Volume: 633, P: 47-57
Localized, time-dependent responses of rat cranial bone to repeated mild traumatic brain injuries

Larissa K. Dill
Natalie A. Sims
Bridgette D. Semple
ResearchOpen Access01 Sept 2022
Scientific Reports

Volume: 12, P: 1-11
Bone loss markers in the earliest Pacific Islanders

Justyna J. Miszkiewicz
Frédérique Valentin
Geoffrey Clark
ResearchOpen Access17 Feb 2021
Scientific Reports

Volume: 11, P: 1-16
Similarities and differences between IL11 and IL11RA1 knockout mice for lung fibro-inflammation, fertility and craniosynostosis

Benjamin Ng
Anissa A. Widjaja
Stuart A. Cook
ResearchOpen Access08 Jul 2021
Scientific Reports

Volume: 11, P: 1-12
Oncostatin M regulates hematopoietic stem cell (HSC) niches in the bone marrow to restrict HSC mobilization

Kavita Bisht
Crystal McGirr
Jean-Pierre Lévesque
Research13 Sept 2021
Leukemia

Volume: 36, P: 333-347
A novel Alzheimer disease locus located near the gene encoding tau protein

G Jun
C A Ibrahim-Verbaas
L A Farrer
Research17 Mar 2015
Molecular Psychiatry

Volume: 21, P: 108-117

Search

A comprehensive assessment of somatic mutation detection in cancer using whole-genome sequencing

Multiparametric physicochemical analysis of a type 1 collagen 3D cell culture model using light and electron microscopy and mass spectrometry imaging

Phosphoproteomics of aged insulin-resistant bone identifies P70S6K phosphorylation of AFF4 as a gene-specific transcriptional regulator

Palaeometabolomes yield biological and ecological profiles at early human sites

Alteration of archeological and natural analogs for radioactive waste glass under different environmental conditions

Self-organizing human cardiac microchambers mediated by geometric confinement

GWAS and meta-analysis identifies 49 genetic variants underlying critical COVID-19

New insights into the Tyrolean Iceman's origin and phenotype as inferred by whole-genome sequencing

Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing

Polygenic prediction of body mass index and obesity through the life course and across ancestries

A second update on mapping the human genetic architecture of COVID-19

A saturated map of common genetic variants associated with human height

New insights into the genetic etiology of Alzheimer’s disease and related dementias

A materials physics perspective on structure–processing–function relations in blends of organic semiconductors

Inhibition of IL-11 signalling extends mammalian healthspan and lifespan

Does anti-sclerostin therapy promote inflammation in rheumatoid arthritis?

Author Correction: GWAS and meta-analysis identifies 49 genetic variants underlying critical COVID-19

Increased autophagy in EphrinB2-deficient osteocytes is associated with elevated secondary mineralization and brittle bone

Whole-genome sequencing of a sporadic primary immunodeficiency cohort

Bone corticalization requires local SOCS3 activity and is promoted by androgen action via interleukin-6

Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variants

Genome-wide detection of tandem DNA repeats that are expanded in autism

Whole-genome sequencing of patients with rare diseases in a national health system

Hematopoietic mosaic chromosomal alterations increase the risk for diverse types of infection

Author Correction: Increased autophagy in EphrinB2-deficient osteocytes is associated with elevated secondary mineralization and brittle bone

Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer’s disease

Overcoming natural Wnt inhibition to optimize therapy

The JAK1/STAT3/SOCS3 axis in bone development, physiology, and pathology

Publisher Correction: Whole-genome sequencing of a sporadic primary immunodeficiency cohort

Author Correction: Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing

Deciphering the impact of genomic variation on function

Localized, time-dependent responses of rat cranial bone to repeated mild traumatic brain injuries

Bone loss markers in the earliest Pacific Islanders

Similarities and differences between IL11 and IL11RA1 knockout mice for lung fibro-inflammation, fertility and craniosynostosis

Oncostatin M regulates hematopoietic stem cell (HSC) niches in the bone marrow to restrict HSC mobilization

A novel Alzheimer disease locus located near the gene encoding tau protein

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