Assessing the utility of long-read genome sequencing to identify genetic causes of unsolved rare diseases

一种罕见的疾病是一种不到2000人中就有1人患病的疾病。虽然个别罕见，但在加拿大，罕见疾病共同影响着大约1/12的人。罕见的疾病通常是遗传的，由影响基因的DNA突变引起。

A rare disease is a disorder that affects less than 1 in 2000 people. Although individually rare, together, rare diseases affect approximately 1 in 12 people in Canada. Rare diseases are most often genetic, caused by mutations to our DNA that affect genes