Identifying rare and common disease associated variants in genomic data using Parkinson's disease as a model.

ABSTRACT:

Background

Genome-wide association studies have been successful in identifying common genetic variants for human diseases. However, much of the heritable variation associated with diseases such as Parkinson's disease remains unknown suggesting that many more risk loci are yet to be identified. Rare variants have become important in disease association studies for explaining missing heritability. Methods for detecting this type of association require prior knowledge on candidate genes and combining variants within the region. These methods may suffer from power loss in situations with many neutral variants or causal variants with opposite effects.

Results

We propose a method capable of scanning genetic variants to identify the region most likely harbouring disease gene with r

SUBMITTER: Lin YC 

PROVIDER: S-EPMC4428531 | biostudies-literature | 2014 Aug

REPOSITORIES: biostudies-literature