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Alex Dainis

Haplotyping of key cardiac disease genes using long-read sequencing

About Alex Dainis

Alex is a PhD candidate in Euan Ashley's lab at Stanford University, studying hypertrophic cardiomyopathy. Her thesis research involves sequencing and haplotyping clinically relevant genes in cardiac disease and using that information to design allele-specific, precision therapeutics.

Recent publications

Dainis, A.M. Cardiovascular precision medicine in the genomics era. JACC: Basic to Translational Science, 3, 313-326 (2018)

Abstract

Hypertrophic cardiomyopathy, characterized by an overgrowth of the left ventricular heart wall, affects 1:500 in the population and can lead to atrial fibrillation, heart failure, and sudden death. Causative genetic mutations identified in sequenced patients most often occur in one of two genes: MYH7 (myosin heavy chain 7) or MYBPC3 (cardiac myosin binding protein c), key components of the cardiac sarcomere. Here, we use targeted long-read sequencing to connect rare genetic variants in sarcomeric genes to novel RNA isoforms. We additionally use long-read sequencing to haplotype cardiac-disease associated genes to identify targets for precision medicine therapeutics. Targeted, multiplexed long-read sequencing of key cardiac disease genes presents an efficient strategy for defining precision medicine targets and providing evidence for disease-causing mutations in cardiovascular disease.

Alex Dainis

Alex Dainis

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