Monroe et al. analyze genome sequencing from individuals with early-onset ventricular arrhythmias. Combining the effect of common genetic variants with rare coding and noncoding regulatory variants in cardiomyopathy and arrhythmia genes predicts outcomes. Each component additively predicts arrhythmia with the cumulative GAPS performing best.

Monroe et al. analyze genome sequencing from individuals with early-onset ventricular arrhythmias. Combining the effect of common genetic variants with rare coding and noncoding regulatory variants in...

ALT: a man wearing a hat that says wayne 's world smiles

A study on the evolutionary origin of the mammalian outer ear finds that it shares genetic programs with the gills of fishes and amphibians, indicating that elements of an ancestral gill have been reu...

Congenital heart disease (CHD) is the most common congenital anomaly. With a molecular diagnosis rate of 55% and high genetic heterogeneity, investigating non-monogenic causes of CHD is warranted. Thi...

Research on the molecular genetic basis for cardiomyopathies, primary heart muscle disorders, has made significant progress in the past decades. This article reviews current understanding of the genet...

Narratives that invoke ancient DNA must be crafted with care, argues an archaeologist

A parallel paradigm for loss-of-function DNA variants is presented, based on cellular consequences when aberrant polypeptide chains of amino acids are translated. Missense variants and nonsense/frameshift variants that generate premature termination codons (PTCs) are considered alongside emergent themes of chaperone binding, protein quality control capacity, and cellular adaptation to stress.