We present the design and analysis pipeline of rare-variant studies and review cost-effective sequencing designs and genotyping platforms.
In this review, we provide an overview of statistical issues in rare-variant association studies with a focus on study designs and statistical tests. An increasing number of studies are underway to identify trait- and disease-associated rare variants.
Rare variants can explain additional disease risk or trait variability.
Despite the extensive discovery of trait- and disease-associated common variants, much of the genetic contribution to complex traits remains unexplained.
