The first phase of the human genetic revolution has identified a large number genes responsible for Mendelian traits in which typically rare mutations impart large effects on disease risk.

• 人类基因革命的第一个阶段已经证实了对孟德尔遗传特征起作用的大量基因，这些基因典型的罕见突变对疾病发生率有很大的影响。