Reevaluating the Mutation Classification in Genetic Studies of Bradycardia Using ACMG/AMP Variant Classification Framework

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 reeva...

書誌詳細
出版年:	International Journal of Genomics
主要な著者:	Liting Cheng, Xiaoyan Li, Lin Zhao, Zefeng Wang, Junmeng Zhang, Zhuo Liang, Yongquan Wu
フォーマット:	論文
言語:	英語
出版事項:	Wiley 2020-01-01
オンライン･アクセス:	http://dx.doi.org/10.1155/2020/2415850

類似資料

Expanding ACMG variant classification guidelines into a general framework
著者:: Emmanuelle Masson, 等
出版事項: (2022-08-01)

ACMG/AMP variant classification framework in arginase 1 deficiency: Implications for birth prevalence estimates and diagnostics
著者:: Jessie M. Cameron, 等
出版事項: (2024-01-01)

P430: Application of ACMG/AMP variant classification guidelines to Alzheimer’s disease-associated genetic variation
著者:: Alexa Dickson, 等
出版事項: (2023-01-01)

P046: ACMG/AMP variant classification framework in arginase 1 deficiency: Implications for birth prevalence estimates and diagnostics
著者:: Mayowa Osundiji, 等
出版事項: (2024-01-01)

Reclassification of Whole Exome Sequencing-derived Genetic Variants in Pendred Syndrome with ACMG/AMP Standards
著者:: Kok-Siong Poon, 等
出版事項: (2021-03-01)

Improving genetic diagnosis by disease-specific, ACMG/AMP variant interpretation guidelines for hearing loss
著者:: So Young Kim, 等
出版事項: (2022-07-01)

P452: Specifying the ACMG/AMP variant sequence interpretation guidelines for congenital myopathies*
著者:: Marina DiStefano, 等
出版事項: (2023-01-01)

Utility of ACMG classification to support interpretation of molecular genetic test results in patients with factor VII deficiency
著者:: Rosa Sonja Alesci, 等
出版事項: (2023-07-01)

Updated ACMG/AMP specifications for variant interpretation and gene curations from the ClinGen RASopathy expert panels
著者:: Emma H. Wilcox, 等
出版事項: (2025-01-01)

O54: Comprehensive database of variants in ACMG secondary findings genes from AI-based systematic evidence curation and expert variant classification
著者:: Amina Kozaric, 等
出版事項: (2025-01-01)

Reevaluation of the Impact of the Novel Likely Pathogenic Variant c.1286_1288delAGA in the ATP8A2 Gene: A 7‐Year Follow‐Up With Clinical, Genetic, and ACMG Insights in an Iranian Family
著者:: Samira Kalayinia, 等
出版事項: (2025-02-01)

O11: Defining the pleiotropic GATA2 deficiency phenotype for the development of ACMG-AMP variant curation rules for GATA2*
著者:: Shruthi Mohan, 等
出版事項: (2023-01-01)

It Is Not Carved in Stone—The Need for a Genetic Reevaluation of Variants in Pediatric Cardiomyopathies
著者:: Dominik Sebastian Westphal, 等
出版事項: (2022-01-01)

P652: Considerations of variant interpretation in galactosemia: Challenges of creating ACMG specifications for GALT
著者:: Alexa Dickson, 等
出版事項: (2025-01-01)

Genetic Approaches for the Treatment of Bradycardias
著者:: Demosthenes G Katritsis
出版事項: (2019-03-01)

38: Adoption of the ACMG and ClinGen copy number variant (CNV) technical standards in clinical genetic laboratories in the United States
著者:: Alexis Williams, 等
出版事項: (2025-01-01)

Identification of novel variants in carbamoyl phosphate synthetase 1 gene and comparative pathogenicity assessments of CPS1 missense variants following ACMG/AMP-ClinGen recommendation for computational tools
著者:: Fei Li, 等
出版事項: (2025-06-01)

Reevaluation of band‐tailed pigeon age classification criteria using wing attributes
著者:: Todd A. Sanders, 等
出版事項: (2014-06-01)

P672: Commercial cystic fibrosis carrier screening tests and coverage of the ACMG 100 recommended variants
著者:: Timothy Tidwell, 等
出版事項: (2024-01-01)

P580: Comparing automated vs ACMG/AMP-based variant interpretation for the CDC Tier 1 conditions in a clinicogenomic cohort from US-based health systems
著者:: Kelly Schiabor Barrett, 等
出版事項: (2025-01-01)

P393: Elevated prevalence of ACMG medically actionable variants in women with Mayer-Rokitansky-Küster-Hauser syndrome
著者:: John Theisen, 等
出版事項: (2024-01-01)

P645: Creation of a ClinGen standard operating procedure to guide gene- and disease-specific refinements of the ACMG/AMP criteria
著者:: Alicia Byrne, 等
出版事項: (2023-01-01)

Evaluation and reevaluation
著者:: William Edridge
出版事項: (2014-08-01)

P106: Population based reporting of ACMG78 secondary findings using semi-automated variant interpretation software for variant prioritization and curation*
著者:: Jennifer Arroyo, 等
出版事項: (2023-01-01)

Efficacy and safety of left bundle branch area pacing versus biventricular pacing in heart failure patients with left bundle branch block: study protocol for a randomised controlled trial
著者:: Lin Zhao, 等
出版事項: (2020-09-01)

Reclassification of VUS in BRCA1 and BRCA2 using the new BRCA1/BRCA2 ENIGMA track set demonstrates the superiority of ClinGen ENIGMA Expert Panel specifications over the standard ACMG/AMP classification system
著者:: Anna Benet-Pagès, 等
出版事項: (2025-01-01)

P625: Utility of highest pathogenic variant frequency approach for application of BA1/BS1 ACMG criteria to reduce variants of uncertain significance
著者:: Kyle Salsbery, 等
出版事項: (2024-01-01)

Reevaluating evolutionary paradigms
著者:: Richard Murdoch Montgomery
出版事項: (2025-03-01)

Classification of clinically actionable genetic mutations in cancer patients
著者:: Muhammad Shahzad, 等
出版事項: (2024-01-01)

Ranolazine Induced Bradycardia, Renal Failure, and Hyperkalemia: A BRASH Syndrome Variant
著者:: Syed Arsalan Akhter Zaidi, 等
出版事項: (2019-01-01)

Prevalence of the cancer-associated germline variants in Russian adults and long-living individuals: using the ACMG recommendations and computational interpreters for pathogenicity assessment
著者:: Mariia Gusakova, 等
出版事項: (2024-09-01)

Fetal bradycardia associated with left ventricle noncompaction diagnosed as HCN4 mutations
著者:: Kosuke Yonehara
出版事項: (2024-11-01)

Bradycardia in Maxillofacial Surgery
著者:: Krittika Aggarwal, 等
出版事項: (2020-03-01)

Bradycardia in a woman
著者:: Fang‐Yu Lin, 等
出版事項: (2024-10-01)

Sinus bradycardia in children
著者:: T. K. Kruchina, 等
出版事項: (2021-06-01)

Bradycardia in frontotemporal dementia
著者:: A. Robles Bayón, 等
出版事項: (2014-03-01)

P682: ACMG ACT Sheets and Algorithms: Update process, development, and utilization
著者:: Molly Caisse, 等
出版事項: (2023-01-01)

P681: Carrier screening with the ACMG 113: An early look and new insights
著者:: Vivienne Souter, 等
出版事項: (2024-01-01)

Trofinetide approved for children and adults with Rett syndrome (RTT): A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG)
著者:: Pavalan Selvam, 等
出版事項: (2024-01-01)

P753: Variant interpretation of high-penetrance breast cancer genes in underrepresented populations: A review of ACMG guideline adherence and hypothetical data
著者:: Kelly Landucci, 等
出版事項: (2025-01-01)