Nature Search

Genome-wide association study and polygenic risk prediction of hypothyroidism

Large-scale genome-wide analyses identify hundreds of genetic loci associated with hypothyroidism and thyroid hormone levels, demonstrating the potential of using polygenic risk scores to predict disease onset and progression.

Søren A. Rand
Gustav Ahlberg
Jonas Ghouse
ResearchOpen Access14 Nov 2025
Nature Genetics

Volume: 57, P: 3007-3015
Rare truncating variants in the sarcomeric protein titin associate with familial and early-onset atrial fibrillation

Common genetic variants in structural proteins contribute to risk of atrial fibrillation (AF). Here, using whole-exome sequencing, the authors identify rare truncating variants in TTN that associate with familial and early-onset AF and show defects in cardiac sarcomere assembly in ttn.2-mutant zebrafish.

Gustav Ahlberg
Lena Refsgaard
Morten S. Olesen
ResearchOpen Access17 Oct 2018
Nature Communications

Volume: 9, P: 1-11
Genetic analyses of the electrocardiographic QT interval and its components identify additional loci and pathways

The QT interval is a heritable electrocardiographic measure associated with arrhythmia risk when prolonged. Here, the authors used a series of genetic analyses to identify genetic loci, pathways, therapeutic targets, and relationships with cardiovascular disease.

William J. Young
Najim Lahrouchi
Patricia B. Munroe
ResearchOpen Access01 Sept 2022
Nature Communications

Volume: 13, P: 1-18
Integrative common and rare variant analyses provide insights into the genetic architecture of liver cirrhosis

A multi-ancestry genome-wide association study of liver cirrhosis and its associated endophenotypes identifies and validates 14 risk variants. Integrative common and rare variant analyses provide insights into the genetic architecture of liver cirrhosis.

Jonas Ghouse
Gardar Sveinbjörnsson
Stefan Stender
ResearchOpen Access17 Apr 2024
Nature Genetics

Volume: 56, P: 827-837
DeepFake electrocardiograms using generative adversarial networks are the beginning of the end for privacy issues in medicine

Vajira Thambawita
Jonas L. Isaksen
Jørgen K. Kanters
ResearchOpen Access09 Nov 2021
Scientific Reports

Volume: 11, P: 1-8
Multi-ethnic genome-wide association study for atrial fibrillation

This large, multi-ethnic genome-wide association study identifies 97 loci significantly associated with atrial fibrillation. These loci are enriched for genes involved in cardiac development, electrophysiology, structure and contractile function.

Carolina Roselli
Mark D. Chaffin
Patrick T. Ellinor
Research11 Jun 2018
Nature Genetics

Volume: 50, P: 1225-1233
Early-onset atrial fibrillation patients show reduced left ventricular ejection fraction and increased atrial fibrosis

Laura Andreasen
Litten Bertelsen
Morten S. Olesen
ResearchOpen Access22 Jun 2020
Scientific Reports

Volume: 10, P: 1-8
Genome-wide meta-analysis identifies 93 risk loci and enables risk prediction equivalent to monogenic forms of venous thromboembolism

Genome-wide association analyses identify 93 risk loci for venous thromboembolism (VTE). A polygenic score derived from these results identifies individuals at increased VTE risk equivalent to monogenic forms of the disease.

Jonas Ghouse
Vinicius Tragante
Henning Bundgaard
Research19 Jan 2023
Nature Genetics

Volume: 55, P: 399-409
Next-generation sequencing of AV nodal reentrant tachycardia patients identifies broad spectrum of variants in ion channel genes

Laura Andreasen
Gustav Ahlberg
Jesper H. Svendsen
Research02 Feb 2018
European Journal of Human Genetics

Volume: 26, P: 660-668
Hundreds of new murine genes cause CVD

The International Mouse Phenotyping Consortium releases cardiac phenotype characterization of almost 4,000 monogenic null mice. This impressive international effort reports 486 new genes associated with cardiac malfunction.

Gustav Ahlberg
Morten Salling Olesen
News & Views17 Feb 2022
Nature Cardiovascular Research

Volume: 1, P: 104
Explaining deep neural networks for knowledge discovery in electrocardiogram analysis

Steven A. Hicks
Jonas L. Isaksen
Jørgen K. Kanters
ResearchOpen Access26 May 2021
Scientific Reports

Volume: 11, P: 1-11
Reappraisal of variants previously linked with sudden infant death syndrome: results from three population-based cohorts

Christian Paludan-Müller
Jonas Ghouse
Morten S. Olesen
Research01 May 2019
European Journal of Human Genetics

Volume: 27, P: 1427-1435
A Novel Loss-of-Function Variant in the Chloride Ion Channel Gene Clcn2 Associates with Atrial Fibrillation

Thea Hyttel Hansen
Yannan Yan
Nicole Schmitt
ResearchOpen Access29 Jan 2020
Scientific Reports

Volume: 10, P: 1-10
Numerous Brugada syndrome–associated genetic variants have no effect on J-point elevation, syncope susceptibility, malignant cardiac arrhythmia, and all-cause mortality

Jonas Ghouse
Christian T. Have
Morten S. Olesen
Research06 Oct 2016
Genetics in Medicine

Volume: 19, P: 521-528

Search

Genome-wide association study and polygenic risk prediction of hypothyroidism

Rare truncating variants in the sarcomeric protein titin associate with familial and early-onset atrial fibrillation

Genetic analyses of the electrocardiographic QT interval and its components identify additional loci and pathways

Integrative common and rare variant analyses provide insights into the genetic architecture of liver cirrhosis

DeepFake electrocardiograms using generative adversarial networks are the beginning of the end for privacy issues in medicine

Multi-ethnic genome-wide association study for atrial fibrillation

Early-onset atrial fibrillation patients show reduced left ventricular ejection fraction and increased atrial fibrosis

Genome-wide meta-analysis identifies 93 risk loci and enables risk prediction equivalent to monogenic forms of venous thromboembolism

Next-generation sequencing of AV nodal reentrant tachycardia patients identifies broad spectrum of variants in ion channel genes

Hundreds of new murine genes cause CVD

Explaining deep neural networks for knowledge discovery in electrocardiogram analysis

Reappraisal of variants previously linked with sudden infant death syndrome: results from three population-based cohorts

A Novel Loss-of-Function Variant in the Chloride Ion Channel Gene Clcn2 Associates with Atrial Fibrillation

Numerous Brugada syndrome–associated genetic variants have no effect on J-point elevation, syncope susceptibility, malignant cardiac arrhythmia, and all-cause mortality

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