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Official Journal of the Human Genome Organisation

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%)