Cardiac mosaicism Somatic mosaicism has been noted in the heart. Sequencing suggested mosaic variation in the gap junction protein connexin in three patients out of 15 might contribute to atrial fibrillation9 although subsequent reports in larger numbers of patients found no examples among a large panel of genes .10 At Stanford, a team led by Euan Ashley demonstrated somatic mosaicism in the heart of a newborn presenting with life threatening arrhythmia. Family-based genome sequencing as well as tissue RNA sequencing and single cell genomics techniques were used to verify the finding. A model combining partial and ordinary differential equations with inputs from heterologous single channel electrophysiology experiments of the genetic variant recapitulated certain aspects of the clinical presentation .11
Cardiac mosaicism Somatic mosaicism has been noted in the heart. Sequencing suggested mosaic variation in the gap junction protein connexin in three patients out of 15 might contribute to atrial fibrillation although subsequent reports in larger numbers of patients found no examples among a large panel of genes . At Stanford, a team led by Euan Ashley demonstrated somatic mosaicism in the heart of a newborn presenting with life threatening arrhythmia. Family-based genome sequencing as well as tissue RNA sequencing and single cell genomics techniques were used to verify the finding. A model combining partial and ordinary differential equations with inputs from heterologous single channel electrophysiology experiments of the genetic variant recapitulated certain aspects of the clinical presentation .
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