, but have not been investigated in a broad phenotype context in most studies, which lack the scale, the advantage of isolation and/or the high rates of homozygosity by descent. We suggest that searching for homozygous effects is most meaningful for coding and structural variants as opposed to regulatory variants with only weak effects.
Patients and control individuals in FinnGen provided informed consent for biobank research, according to the Finnish Biobank Act. Alternatively, separate research cohorts, collected before the Finnish Biobank Act came into effect and before the start of FinnGen were collected on the basis of study-specific consents and later transferred to the Finnish biobanks after approval by Fimea , the National Supervisory Authority for Welfare and Health.
Diallelic