Work

Evaluation of two-step iterative resampling procedure for internal validation of genome-wide association studies

Year: 2014

Type: article

Abstract: Background Genome-wide association (GWA) studies have successfully identified many common genetic variants associated with complex diseases over the past decade. The standard method for validating the top single nucleotide polymorphisms (SNPs) identified in GWA studies is to identify and replicate the findings in external cohorts. However, in cases of rare diseases like retinoblastoma and Ewing sarcoma that have prevalence rates of about 0.000001, it can be difficult to find an external validation cohort within a reasonable time frame. Even when disease outcomes are not rare, it can be hard to find a suitable external validation cohort.

Source: BMC Bioinformatics

DOI: 10.1186/1471-2105-15-s10-p34