In order to assess the benefits of genome sequencing compared to exome sequencing, scientists from the Broad Institute of MIT and Harvard and Harvard Medical School in Boston analyzed 744 families.

Coronary artery disease (CAD) is the leading cause of morbidity and mortality worldwide 1. CAD has a strong genetic component with an estimated heritability of 40–60% (ref. 2). Large-scale genome-wide ...

The role of rare non-coding variation in common human phenotypes is still largely unknown. Previous studies have been largely limited to studying common variations using genotyping arrays or rare ...

Genetic mutations in human DNA can prevent proteins that perform important functions in the body from being formed correctly. This can lead to serious disorders that cause disease or even disability.

The non-coding genome, once dismissed as "junk DNA", is now recognized as a fundamental regulator of gene expression and a key player in understanding complex diseases. Following the landmark ...