PT  - JOURNAL ARTICLE
AU  - Daniel J. Balick
AU  - Ron Do
AU  - David Reich
AU  - Shamil R. Sunyaev
TI  - Response to a population bottleneck can be used to infer recessive selection
AID  - 10.1101/003491
DP  - 2014 Jan 01
TA  - bioRxiv
PG  - 003491
4099  - http://biorxiv.org/content/early/2014/03/21/003491.short
4100  - http://biorxiv.org/content/early/2014/03/21/003491.full
AB  - Here we present the first genome wide statistical test for recessive selection. This test uses explicitly non-equilibrium demographic differences between populations to infer the mode of selection. By analyzing the transient response to a population bottleneck and subsequent re-expansion, we qualitatively distinguish between alleles under additive and recessive selection. We analyze the response of the average number of deleterious mutations per haploid individual and describe time dependence of this quantity. We introduce a statistic, BR, to compare the number of mutations in different populations and detail its functional dependence on the strength of selection and the intensity of the population bottleneck. This test can be used to detect the predominant mode of selection on the genome wide or regional level, as well as among a sufficiently large set of medically or functionally relevant alleles.