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April 11, 2014European Heart Journal45 citationsOpen Access

Whole-exome sequencing in familial atrial fibrillation

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Why the study?

Does whole-exome sequencing identify pathogenic variants in familial atrial fibrillation?

Population

18 individuals in six modestly sized familial atrial fibrillation (AF) kindreds

Design

Case_series

Authors

PWPeter WeekeRMRaafia MuhammadJDJessica Delaney

Discussion

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Overview

Should not change clinical genetic testing in AF; hypothesis-generating for rare variants in CACNB2/CACNA2D4 requiring replication.

Structured PICO

Does whole-exome sequencing identify pathogenic variants in familial atrial fibrillation?

P
Population
18 individuals in six modestly sized familial atrial fibrillation (AF) kindreds
I
Intervention
Whole-exome sequencing (WES)
O
Outcome
Identification of variants associated with familial AFsurrogate

Whole-exome sequencing in familial AF kindreds identified multiple rare, potentially pathogenic variants, suggesting a complex genetic disease mechanism.

Limitations

  • Lack of large well-curated multi-generational pedigrees
  • Potential AF misclassification
  • Limitations of WES technology when applied to a complex disease
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Cite This Study

Weeke et al. (2014) studied this question.

synapsesocial.com/papers/6a0511c5fba2ba61ab55fba0https://doi.org/10.1093/eurheartj/ehu156
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