Estimating Sampling Selection Bias in Human Genetics: A Phenomenological Approach.

ABSTRACT: This research is the first empirical attempt to calculate the various components of the hidden bias associated with the sampling strategies routinely-used in human genetics, with special reference to surname-based strategies. We reconstructed surname distributions of 26 Italian communities with different demographic features across the last six centuries (years 1447-2001). The degree of overlapping between "reference founding core" distributions and the distributions obtained from sampling the present day communities by probabilistic and selective methods was quantified under different conditions and models. When taking into account only one individual per surname (low kinship model), the average discrepancy was 59.5%, with a peak of 84% by random sampling. When multiple individuals per su

SUBMITTER: Risso D 

PROVIDER: S-EPMC4599962 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature