CLIA-tested genetic variants on commercial SNP arrays: potential for incidental findings in genome-wide association studies.

ABSTRACT:

Purpose

Increases in throughput and affordability of genotyping products have led to large sample sizes in genetic studies, increasing the likelihood that incidental genetic findings may occur. We set out to survey potential notifiable variants on arrays used in genome-wide association studies and in direct-to-consumer genetic services.

Methods

We used multiple bioinformatics strategies to identify, and map variants tested for genetic disorders in > or = 2 CLIA-approved laboratories (based on the GeneTests database). We subsequently surveyed 18 commercial single nucleotide polymorphism arrays and HapMap for these variants.

Results

Of 1,362 genes tested according to GeneTests, we identified 298 specific targeted mutations measured in more than or equal to two laborator

SUBMITTER: Johnson AD 

PROVIDER: S-EPMC3056880 | biostudies-literature | 2010 Jun

REPOSITORIES: biostudies-literature