Benefits and limitations of genome-wide association studies
Genome-wide association studies (GWAS) involve testing genetic variants across the
genomes of many individuals to identify genotype–phenotype associations. GWAS have …
genomes of many individuals to identify genotype–phenotype associations. GWAS have …
Management of asymptomatic arrhythmias: a European heart rhythm association (EHRA) consensus document, endorsed by the heart failure association (HFA), heart …
Asymptomatic arrhythmias are frequently encountered in clinical practice. Although studies
specifically dedicated to these asymptomatic arrhythmias are lacking, many arrhythmias still …
specifically dedicated to these asymptomatic arrhythmias are lacking, many arrhythmias still …
2018 ACC/AHA/HRS guideline on the evaluation and management of patients with bradycardia and cardiac conduction delay: a report of the American College of …
FM Kusumoto, MH Schoenfeld, C Barrett… - Journal of the American …, 2019 - jacc.org
The recommendations listed in this guideline are, whenever possible, evidence based. An
initial extensive evidence review, which included literature derived from research involving …
initial extensive evidence review, which included literature derived from research involving …
Familial Sinus Node Disease Caused by a Gain of GIRK (G-Protein Activated Inwardly Rectifying K+ Channel) Channel Function
J Kuß, B Stallmeyer, M Goldstein, S Rinné… - Circulation: Genomic …, 2019 - Am Heart Assoc
Background: Inherited forms of sinus node dysfunction (SND) clinically include bradycardia,
sinus arrest, and chronotropic incompetence and may serve as disease models to …
sinus arrest, and chronotropic incompetence and may serve as disease models to …
Sequence variants with large effects on cardiac electrophysiology and disease
K Norland, G Sveinbjornsson, RB Thorolfsdottir… - Nature …, 2019 - nature.com
Features of the QRS complex of the electrocardiogram, reflecting ventricular depolarisation,
associate with various physiologic functions and several pathologic conditions. We test 32.5 …
associate with various physiologic functions and several pathologic conditions. We test 32.5 …
Ancestry‐specific association mapping in admixed populations
During the last decade genome‐wide association studies have proven to be a powerful
approach to identifying disease‐causing variants. However, for admixed populations, most …
approach to identifying disease‐causing variants. However, for admixed populations, most …
Advantages of genotype imputation with ethnically matched reference panel for rare variant association analyses
Genotype imputation has become a standard procedure prior genome-wide association
studies (GWASs). For common and low-frequency variants, genotype imputation can be …
studies (GWASs). For common and low-frequency variants, genotype imputation can be …
Precision oncology: Lessons learned and challenges for the future
The decreasing cost of and increasing capacity of DNA sequencing has led to vastly
increased opportunities for population-level genomic studies to discover novel genomic …
increased opportunities for population-level genomic studies to discover novel genomic …
Whole-exome sequencing in the isolated populations of Cilento from South Italy
T Nutile, D Ruggiero, AF Herzig, A Tirozzi, S Nappo… - Scientific Reports, 2019 - nature.com
The present study describes the genetic architecture of the isolated populations of Cilento,
through the analysis of exome sequence data of 245 representative individuals of these …
through the analysis of exome sequence data of 245 representative individuals of these …
Familial clustering of cardiac conduction defects and pacemaker insertion
BM Kaess, C Andersson, MS Duncan… - Circulation …, 2019 - Am Heart Assoc
Background: The etiopathogenesis of electrocardiographic bundle branch and
atrioventricular blocks is not fully understood. We investigated familial clustering of cardiac …
atrioventricular blocks is not fully understood. We investigated familial clustering of cardiac …