Purpose. Next-generation sequencing (NGS) has become more accessible, leading to an increasing number of genetic studies of familial bradycardia being reported. However, most of the variants lack full evaluation. The relationship between genetic factors and bradycardia should be summarized and reevaluated. Methods. We summarized genetic studies published in the PubMed database from 2008/1/1 to 2019/9/1 and used the ACMG/AMP classification framework to analyze related sequence variants. Results. We identified 88 articles, 99 sequence variants, and 34 genes after searching the PubMed database and classified ABCC9, ACTN2, CACNA1C, DES, HCN4, KCNQ1, KCNH2, LMNA, MECP2, LAMP2, NPPA, SCN5A, and TRPM4 as high-priority genes causing familial bradyc...
Inherited cardiomyopathies comprise a clinically and genetically heterogeneous group of heart muscle...
Background Arrhythmogenic cardiomyopathy (AC) is a rare heart muscle disease characterized by fibrof...
Aim: The genetic etiologies of cardiomyopathies and arrhythmias have not been fully elucidated. Mate...
Purpose Integrating genomic sequencing in clinical care requires standardization of variant interpre...
Purpose: Integrating genomic sequencing in clinical care requires standardization of variant interpr...
PurposeIntegrating genomic sequencing in clinical care requires standardization of variant interpret...
Introduction The assessment of pathogenicity of genetic sequence variants is probabilistic and rema...
Purpose Accurate interpretation of variants detected in dilated cardiomyopathy (DCM) is crucial for ...
This record contains raw data related to the article “Spectrum of Rare and Common Genetic Variants i...
Genetic testing for cardiovascular disease (CVD) has advanced over the past ten years, but these adv...
With the development and advancement of next-generation sequencing (NGS), genetic analysis is becomi...
© 2018, American College of Medical Genetics and Genomics. Purpose: We evaluated strategies for iden...
Purpose: Integrating genomic sequencing in clinical care requires standardization of variant interpr...
PurposeIntegrating genomic sequencing in clinical care requires standardization of variant interpret...
Cardiomyopathies are a heterogeneous group of primary diseases of the myocardium, including hypertro...
Inherited cardiomyopathies comprise a clinically and genetically heterogeneous group of heart muscle...
Background Arrhythmogenic cardiomyopathy (AC) is a rare heart muscle disease characterized by fibrof...
Aim: The genetic etiologies of cardiomyopathies and arrhythmias have not been fully elucidated. Mate...
Purpose Integrating genomic sequencing in clinical care requires standardization of variant interpre...
Purpose: Integrating genomic sequencing in clinical care requires standardization of variant interpr...
PurposeIntegrating genomic sequencing in clinical care requires standardization of variant interpret...
Introduction The assessment of pathogenicity of genetic sequence variants is probabilistic and rema...
Purpose Accurate interpretation of variants detected in dilated cardiomyopathy (DCM) is crucial for ...
This record contains raw data related to the article “Spectrum of Rare and Common Genetic Variants i...
Genetic testing for cardiovascular disease (CVD) has advanced over the past ten years, but these adv...
With the development and advancement of next-generation sequencing (NGS), genetic analysis is becomi...
© 2018, American College of Medical Genetics and Genomics. Purpose: We evaluated strategies for iden...
Purpose: Integrating genomic sequencing in clinical care requires standardization of variant interpr...
PurposeIntegrating genomic sequencing in clinical care requires standardization of variant interpret...
Cardiomyopathies are a heterogeneous group of primary diseases of the myocardium, including hypertro...
Inherited cardiomyopathies comprise a clinically and genetically heterogeneous group of heart muscle...
Background Arrhythmogenic cardiomyopathy (AC) is a rare heart muscle disease characterized by fibrof...
Aim: The genetic etiologies of cardiomyopathies and arrhythmias have not been fully elucidated. Mate...