Nature Search

Detecting structural heart disease from electrocardiograms using AI

EchoNext, a deep learning model for electrocardiograms trained and validated in diverse health systems, successfully detects many forms of structural heart disease, supporting the potential of artificial intelligence to expand access to heart disease screening at scale.

Timothy J. Poterucha
Linyuan Jing
Pierre Elias
ResearchOpen Access16 Jul 2025
Nature

Volume: 644, P: 221-230
Meta-analysis of genome-wide associations and polygenic risk prediction for atrial fibrillation in more than 180,000 cases

Genome-wide association meta-analyses identify more than 350 loci associated with atrial fibrillation. A polygenic score derived from these results improves atrial fibrillation risk prediction compared to published clinical and polygenic scores.

Carolina Roselli
Ida Surakka
Patrick T. Ellinor
Research06 Mar 2025
Nature Genetics

Volume: 57, P: 539-547
Genome-wide association study meta-analysis provides insights into the etiology of heart failure and its subtypes

Genome-wide association analyses identify new risk loci for heart failure and its subtypes, extending understanding of the underlying biological pathways and disease mechanisms.

Albert Henry
Xiaodong Mo
R. Thomas Lumbers
ResearchOpen Access04 Mar 2025
Nature Genetics

Volume: 57, P: 815-828
Deep-learning-assisted analysis of echocardiographic videos improves predictions of all-cause mortality

A deep learning model trained on raw pixel data in hundreds of thousands of echocardiographic videos for the prediction of one-year all-cause mortality outperforms clinical scores and improves predictions by cardiologists.

Alvaro E. Ulloa Cerna
Linyuan Jing
Brandon K. Fornwalt
Research08 Feb 2021
Nature Biomedical Engineering

Volume: 5, P: 546-554
Sequencing in over 50,000 cases identifies coding and structural variation underlying atrial fibrillation risk

Analyses of genome and exome sequencing data identify rare coding and structural variants associated with atrial fibrillation and highlight genetic links between atrial fibrillation and cardiomyopathies.

Seung Hoan Choi
Sean J. Jurgens
Patrick T. Ellinor
Research06 Mar 2025
Nature Genetics

Volume: 57, P: 548-562
Common-variant and rare-variant genetic architecture of heart failure across the allele-frequency spectrum

Common-variant and rare-variant association analyses combining datasets from multiple populations yield insights into the genetic architecture of all-cause heart failure across the allele-frequency spectrum.

David S. M. Lee
Kathleen M. Cardone
Scott M. Damrauer
Research07 Apr 2025
Nature Genetics

Volume: 57, P: 829-838
Genome-wide association and Mendelian randomisation analysis provide insights into the pathogenesis of heart failure

Heart failure is a complex syndrome that is associated with many different underlying risk factors. Here, to increase power, the authors jointly analyse cases of heart failure of different aetiologies in a genome-wide association study and identify 11 loci of which ten had not been previously reported.

Sonia Shah
Albert Henry
R. Thomas Lumbers
ResearchOpen Access09 Jan 2020
Nature Communications

Volume: 11, P: 1-12
The impact of common and rare genetic variants on bradyarrhythmia development

Genome-wide analyses identify variants associated with sinus node dysfunction, distal conduction disease and pacemaker implantation, implicating ion channel function, cardiac developmental programs and sarcomeric structure in bradyarrhythmia susceptibility.

Lu-Chen Weng
Joel T. Rämö
Steven A. Lubitz
ResearchOpen Access02 Jan 2025
Nature Genetics

Volume: 57, P: 53-64
Genome-wide association analysis provides insights into the molecular etiology of dilated cardiomyopathy

Genome-wide association analyses comprising 14,256 cases and 1,199,156 controls and incorporating correlated cardiac magnetic resonance imaging traits provide insights into the molecular etiology of dilated cardiomyopathy.

Sean L. Zheng
Albert Henry
R. Thomas Lumbers
ResearchOpen Access21 Nov 2024
Nature Genetics

Volume: 56, P: 2646-2658
Towards complete and error-free genome assemblies of all vertebrate species

The Vertebrate Genome Project has used an optimized pipeline to generate high-quality genome assemblies for sixteen species (representing all major vertebrate classes), which have led to new biological insights.

Arang Rhie
Shane A. McCarthy
Erich D. Jarvis
ResearchOpen Access28 Apr 2021
Nature

Volume: 592, P: 737-746
A planetary health innovation for disease, food and water challenges in Africa

By harvesting aquatic vegetation that provides habitat for snails that harbour Schistosoma parasites and converting it to compost and animal feed, a trial reduced schistosomiasis prevalence in children while providing wider economic benefits.

Jason R. Rohr
Alexandra Sack
Caitlin Wolfe
Research12 Jul 2023
Nature

Volume: 619, P: 782-787
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
Research23 Aug 2023
Nature

Volume: 621, P: 344-354
Prediction of mortality from 12-lead electrocardiogram voltage data using a deep neural network

By using data from electrocardiograms, a deep learning algorithm outperforms traditional risk scores in predicting death over the course of the next year and identifies at-risk individuals with seemingly normal electrocardiograms.

Sushravya Raghunath
Alvaro E. Ulloa Cerna
Brandon K. Fornwalt
Research11 May 2020
Nature Medicine

Volume: 26, P: 886-891
Endophenotype effect sizes support variant pathogenicity in monogenic disease susceptibility genes

Accurate classification of genetic variants is critical for research and patient care. Here, the authors report that population-based associations between rare variants and quantitative endophenotypes for monogenic diseases can provide support for variant pathogenicity.

Jennifer L. Halford
Valerie N. Morrill
Steven A. Lubitz
ResearchOpen Access30 Aug 2022
Nature Communications

Volume: 13, P: 1-11
Synthesizing evidence for the external cycling of NO_x in high- to low-NO_x atmospheres

External cycling regenerates nitrogen oxides from the NO_x oxidative reservoir, NO_z. Aircraft observations reveal NO_x external cycling compensates for NO_x aging, sustaining NO_x distribution and production of OH radicals far from NO_x emission sources

Chunxiang Ye
Xianliang Zhou
Shaojie Song
ResearchOpen Access02 Dec 2023
Nature Communications

Volume: 14, P: 1-10
Genome-wide association and multi-trait analyses characterize the common genetic architecture of heart failure

Heart failure is a major cause of cardiovascular morbidity and mortality. Here, the authors report results of a genome-wide association study meta-analysis, characterizing the role of common genetic variants in heart failure, finding overlap with common cardiovascular risk factors and imaging measures of cardiac structure/function.

Michael G. Levin
Noah L. Tsao
Scott M. Damrauer
ResearchOpen Access14 Nov 2022
Nature Communications

Volume: 13, P: 1-15
Analysis of rare genetic variation underlying cardiometabolic diseases and traits among 200,000 individuals in the UK Biobank

Analysis of whole-exome sequencing data from over 200,000 individuals in the UK Biobank provides new insights into the contribution of rare variants to cardiometabolic diseases and traits.

Sean J. Jurgens
Seung Hoan Choi
Patrick T. Ellinor
Research17 Feb 2022
Nature Genetics

Volume: 54, P: 240-250
Publisher Correction: Endophenotype effect sizes support variant pathogenicity in monogenic disease susceptibility genes

Jennifer L. Halford
Valerie N. Morrill
Steven A. Lubitz
Amendments and CorrectionsOpen Access30 Sept 2022
Nature Communications

Volume: 13, P: 1
The genetic architecture of Plakophilin 2 cardiomyopathy

Annika M. Dries
Anna Kirillova
Victoria N. Parikh
ResearchOpen Access12 Jun 2021
Genetics in Medicine

Volume: 23, P: 1961-1968
Rapid cycling of reactive nitrogen in the marine boundary layer

Aircraft measurements, laboratory photolysis experiments and modelling calculations reveal a mechanism for the recycling of nitric acid into nitrogen oxides; this enables observations to be reconciled with model studies, and suggests that particulate nitrate photolysis could be a substantial tropospheric nitrogen oxide source.

Chunxiang Ye
Xianliang Zhou
Christoph Knote
Research11 Apr 2016
Nature

Volume: 532, P: 489-491
Correction to: The genetic architecture of Plakophilin 2 cardiomyopathy

Annika M. Dries
Anna Kirillova
Victoria N. Parikh
Amendments and CorrectionsOpen Access18 Aug 2021
Genetics in Medicine

Volume: 23, P: 2014
Addressing the need for individual-level exposure monitoring for firefighters using silicone samplers

Emily M. Bonner
Carolyn M. Poutasse
Kim A. Anderson
ResearchOpen Access20 Jul 2024
Journal of Exposure Science & Environmental Epidemiology

Volume: 35, P: 180-195
A genome-first approach to aggregating rare genetic variants in LMNA for association with electronic health record phenotypes

Joseph Park
Michael G. Levin
Daniel J. Rader
Research06 Aug 2019
Genetics in Medicine

Volume: 22, P: 102-111
Gut microbiota plasticity is correlated with sustained weight loss on a low-carb or low-fat dietary intervention

Jessica A. Grembi
Lan H. Nguyen
Julie Parsonnet
ResearchOpen Access29 Jan 2020
Scientific Reports

Volume: 10, P: 1-14
Electronic health record phenotype in subjects with genetic variants associated with arrhythmogenic right ventricular cardiomyopathy: a study of 30,716 subjects with exome sequencing

Christopher M Haggerty
Cynthia A James
Brandon K Fornwalt
Research04 May 2017
Genetics in Medicine

Volume: 19, P: 1245-1252
An analysis-ready and quality controlled resource for pediatric brain white-matter research

Adam Richie-Halford
Matthew Cieslak
Ariel Rokem
ResearchOpen Access12 Oct 2022
Scientific Data

Volume: 9, P: 1-27
Publisher Correction: An analysis-ready and quality controlled resource for pediatric brain white-matter research

Adam Richie-Halford
Matthew Cieslak
Ariel Rokem
Amendments and CorrectionsOpen Access31 Oct 2022
Scientific Data

Volume: 9, P: 1-2
Author Correction: An analysis-ready and quality controlled resource for pediatric brain white-matter research

Adam Richie-Halford
Matthew Cieslak
Ariel Rokem
Amendments and CorrectionsOpen Access28 Apr 2023
Scientific Data

Volume: 10, P: 1-2
Author Correction: An analysis-ready and quality controlled resource for pediatric brain white-matter research

Adam Richie-Halford
Matthew Cieslak
Ariel Rokem
Amendments and CorrectionsOpen Access17 Nov 2022
Scientific Data

Volume: 9, P: 1-2

Search

Detecting structural heart disease from electrocardiograms using AI

Meta-analysis of genome-wide associations and polygenic risk prediction for atrial fibrillation in more than 180,000 cases

Genome-wide association study meta-analysis provides insights into the etiology of heart failure and its subtypes

Deep-learning-assisted analysis of echocardiographic videos improves predictions of all-cause mortality

Sequencing in over 50,000 cases identifies coding and structural variation underlying atrial fibrillation risk

Common-variant and rare-variant genetic architecture of heart failure across the allele-frequency spectrum

Genome-wide association and Mendelian randomisation analysis provide insights into the pathogenesis of heart failure

The impact of common and rare genetic variants on bradyarrhythmia development

Genome-wide association analysis provides insights into the molecular etiology of dilated cardiomyopathy

Towards complete and error-free genome assemblies of all vertebrate species

A planetary health innovation for disease, food and water challenges in Africa

The complete sequence of a human Y chromosome

Prediction of mortality from 12-lead electrocardiogram voltage data using a deep neural network

Endophenotype effect sizes support variant pathogenicity in monogenic disease susceptibility genes

Synthesizing evidence for the external cycling of NO_x in high- to low-NO_x atmospheres

Genome-wide association and multi-trait analyses characterize the common genetic architecture of heart failure

Analysis of rare genetic variation underlying cardiometabolic diseases and traits among 200,000 individuals in the UK Biobank

Publisher Correction: Endophenotype effect sizes support variant pathogenicity in monogenic disease susceptibility genes

The genetic architecture of Plakophilin 2 cardiomyopathy

Rapid cycling of reactive nitrogen in the marine boundary layer

Correction to: The genetic architecture of Plakophilin 2 cardiomyopathy

Addressing the need for individual-level exposure monitoring for firefighters using silicone samplers

A genome-first approach to aggregating rare genetic variants in LMNA for association with electronic health record phenotypes

Gut microbiota plasticity is correlated with sustained weight loss on a low-carb or low-fat dietary intervention

Electronic health record phenotype in subjects with genetic variants associated with arrhythmogenic right ventricular cardiomyopathy: a study of 30,716 subjects with exome sequencing

An analysis-ready and quality controlled resource for pediatric brain white-matter research

Publisher Correction: An analysis-ready and quality controlled resource for pediatric brain white-matter research

Author Correction: An analysis-ready and quality controlled resource for pediatric brain white-matter research

Author Correction: An analysis-ready and quality controlled resource for pediatric brain white-matter research

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