Utilization of archived neonatal dried blood spots for genome-wide genotyping.

ABSTRACT:

Introduction

Heel pricks are performed on newborns for diagnostic screenings of various pre-symptomatic metabolic and genetic diseases. Excess blood is spotted on Guthrie cards and archived by many states in biobanks for follow-up diagnoses and public health research. However, storage environment may vary across biobanks and across time within biobanks. With increased applications of DNA extracted from spots for genetic studies, identifying factors associated with genotyping success is critical to maximize DNA quality for future studies.

Method

We evaluated 399 blood spots, which were part of a genome-wide association study of childhood leukemia risk in children with Down syndrome, archived at the Michigan Neonatal Biobank between 1992 and 2008. High quality DNA was defined

SUBMITTER: Sok P 

PROVIDER: S-EPMC7034898 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature