Insights into blood lipids from rare variant discovery

摘要: Large-scale genome wide screens have discovered over 160 common variants associated with plasma lipids, which are risk factors often linked to heart disease. A large fraction of lipid heritability remains unexplained, and it is hypothesized that rare functional consequence may account for some the missing heritability. Finding lipid-associated occur less frequently in human population poses a challenge, primarily due lack power difficulties identify test them. Interrogation protein-coding regions using array sequencing techniques has led important discoveries affect levels related disease risk. Here, we summarize latest methods findings contribute our current understanding variant genetics.