SCN5A and familial hypercholesterolemia: For instance, in cardiology, genes such as LDLR, APOB, SCN5A, MYH7, and TNNT2 are frequently implicated in conditions like familial hypercholesterolemia, arrhythmias, and cardiomyopathies, many of which harbour variants in regions that are difficult to resolve using short-read technologies.