Selecting cases and controls for DNA sequencing studies using family histories of disease.

ABSTRACT: Recent improvements in sequencing technology have enabled the investigation of so-called missing heritability, and a large number of affected subjects have been sequenced in order to detect significant associations between human diseases and rare variants. However, the cost of genome sequencing is still high, and a statistically powerful strategy for selecting informative subjects would be useful. Therefore, in this report, we propose a new statistical method for selecting cases and controls for sequencing studies based on family history. We assume that disease status is determined by unobserved liability scores. Our method consists of two steps: first, the conditional means of liability are estimated with the liability threshold model given the individual's disease status and those of the

SUBMITTER: Kim W 

PROVIDER: S-EPMC5810411 | biostudies-literature | 2017 Jun

REPOSITORIES: biostudies-literature