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Official Journal of the Human Genome Organisation

The HUGO Journal Cover Image

Table 2 Sample set coding frequencies, N (%)

From: The use of race, ethnicity and ancestry in human genetic research

Variables coded N = 170 (%)
Basic features
 Hypothesis 169 (99.4%)
 Limitations 87 (52.4%)
 Sample origin 163 (95.9%)
Reason for using population
 Why populations 112 (65.9%)
 Why this population 117 (68.8%)
 Basis for assigning population label 150 (88.2%)
 Use of genotyping data to infer genetic ancestry 88 (51.8%)
SNP genotypes or ancestry informative markers (AIMs) used to infer ancestry proportions of individual participants’ DNA samples 20 (23.3%)
Genotype data used to assess the genetic homogeneity of population by principal components cluster analysis, Samples outlying from population clusters of interest excluded from further analysis 36 (41.9%)
Text briefly states that potential population stratification was examined in the research populations, but no further details are provided 32 (36.4%)
 Defines generic ‘race and ethnicity’ or ‘ancestry’ 0 (0%)
 Defines specific population label/describes population group 102 (60.0%)
Ways of using populations in research
 Label for study population only 78 (45.9%)
 Independent variable 87 (51.2%)
 Dependent variable 1 (0.59%)
 DNA with a label 23 (13.5%)
Discusses social and ethical implications 0 (0%)