Although it is generally preferred to use the traditional parameters such as heritability and genotype-relative-risk (GRR) [42] to characterize experimental scenarios, we propose using accuracy as an indicator parameter to capture the characteristics of an ascertained population.
Often, if not always, the original reference and an ascertained population show differences in allele frequencies, and heritability measured from the original population is not sensitive in reflecting the property of an ascertained population and vice versa.
We further demonstrated that an increased burden of rare deletions may also contribute to short stature in a non-clinically ascertained population, underscoring the concept that milder defects in genes known to cause syndromic short stature may contribute to short stature in the general population.
Because our clinical cohort represents a highly ascertained population that underwent CNV analyses as a result of a clinical/molecular diagnosis of HNPCC/LS, the subjects are possibly enriched for rare CNVs.
If the common disease/rare variant theory holds, specifically ascertained populations might have higher heritabilities than found in less selected populations.
This study has potential limitations, including the moderate sample size, yet consistent and significant severity associations with the IL1RN loci were found in two independently ascertained populations.
A total of 1,581 families, a sub-sample from a systematically ascertained, population-based register of all twin births between 1980 and 1991, the Cardiff Study of All-Wales and North-west England Twins (CASTANET) were invited to participate.
Families from a systematically ascertained, population-based register of all twin births between 1980 and 1991 in South Wales, U.K. were invited to participate.
This twin register includes families from a systematically ascertained, population-based register of twin births between 1980 and 1991 in Wales and Greater Manchester, UK.
