Genetics

We have genotyped over 200,000 genetic variants from whole-blood DNA using the Illumina HumanCoreExome-12v1-A BeadChip and imputed approximately 6 million variants using the Haplotype Reference Consortium (HRC) v1.1 reference panel. Additional imputation using the Finland-specific Sisu v4.2 reference panel has increased genomic coverage to approximately 12 million variants. To further improve genomic coverage, we plan to genotype approximately 700,000 variants using the Thermo Fisher Axiom Custom Array v2 and impute approximately 18 million variants using the Sisu v4.2 reference panel.

We have applied genome-wide association study (GWAS) and genetic risk score (GRS) approaches to identify genetic variants associated with risk factors for common chronic diseases and to investigate the contributions of genetic factors and gene–lifestyle interactions to their development.

More information about the Early Growth Genetics Consortium can be found on consortium websites.