PRJNA531964
Oligogenic Inheritance of Heart Disease
Exome sequencing was conducted to identify genetic variants associated with a familial case of a congenital heart defect called left ventricular noncompaction. Both in vivo and in vitro experimental models were then developed to understand the involvement of the three single nucleotide variants that segregated with the most severe cases of the disease. These models confirmed that each variant contributed to the phenotype observed in the patients.