Aleksandra Pavlovic

TL;DR: Although challenges remain, the results suggest that whole-genome sequencing can yield useful and clinically relevant information for individual patients.

TL;DR: Human induced pluripotent stem cells generated from patients with familial dilated cardiomyopathy model cardiovascular disease could provide an important platform to investigate the specific disease mechanisms of DCM as well as other inherited cardiovascular disorders and for screening new drugs for cardiovascular disease.

TL;DR: A pattern of lower overall activity but more frequent transitions between active and inactive states was associated with equivalent self-reported cardiovascular disease as a pattern of higher overall activity with fewer transitions.

TL;DR: A novel synthetic human reference sequence is developed that is ethnically concordant and used for the analysis of genomes from a nuclear family with history of familial thrombophilia, demonstrating that the use of the major allele reference sequence results in improved genotype accuracy for disease-associated variant loci.

TL;DR: In HCM, peak cardiac index is the main determinant of exercise capacity, but it is not significantly related to ventilatory efficiency, and Peak Vo2, ventilatories inefficiency, and LAVI are associated with an increased risk of major events in the short-term follow-up.