Rare Variants on Complex Traits May Be Premature

[PMID:27197206] [Genome Research]

Selection and explosive growth alter genetic architecture and hamper the detection of causal rare variants
“most rare variant association tests (RVATs) do not account for the evolutionary forces that affect genetic architecture””we use simulation and numerical algorithms to show that explosive population growth, as experienced by human populations, can dramatically increase the impact of very rare alleles on trait variance. We then assess the ability of RVATs to detect causal loci using simulations and human RNA-seq data.” “This has sometimes been interpreted to mean that rare variants make negligible contributions to complex trait heritability. Our work shows that RVATs are not robust to realistic human evolutionary forces, so general conclusions about the impact of rare variants on complex traits may be premature.”

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