A copy of this work was available on the public web and has been preserved in the Wayback Machine. The capture dates from 2020; you can also visit the original URL.
The file type is application/pdf
.
Deviation from baseline mutation burden provides powerful and robust rare-variants association test for complex diseases
[article]
2020
bioRxiv
pre-print
AbstractThe identification of rare variants that contribute to complex diseases is challenging due to low statistical power. Here we propose a novel and powerful rare variants association test based on the deviation of the observed mutational burden in a genomic region from a baseline mutation burden predicted by weighted recursive truncated negative-binomial regression (RUNNER) on genomic features available from public data. Simulation studies show that RUNNER is substantially more powerful
doi:10.1101/2020.07.04.186619
fatcat:5gmvkuxmmnckvb5gvdz4fnc5eu