Unequal representation of genetic variation across ancestry groups creates healthcare inequality in the application of precision medicine

Table 1 Group summaries for the number of singleton non-synonymous candidate variants in OMIM disease-associated genes among IGM’s 5965 samples

Geographic ancestry / ethnic group	Number of individuals	Number of singletons using internal reference cohort (n = 5,965)			Number of singletons using internal and ExAC reference cohorts (n = 66,217)
Geographic ancestry / ethnic group	Number of individuals	Median	Mean	SD	Median	Mean	SD
European	5,094	15	15.2	5.0	6	6.6	3.0
African (African American)	505	29	29.7	8.3	9	9.9	4.8
Latino ethnicity	93	28	28.3	6.0	10	10.9	5.5
East Asian	61	51	50.2	9.1	12	12.3	4.2
South Asian	38	49.5	50.5	7.4	12	12.7	3.8
Unassigned	174	24	22.7	11.9	8	8.3	5.8

Data reflect using only the internal reference cohort and then subsequently supplementing the IGM internal reference cohort with variant information from the ExAC reference cohort of 60,252 controls of convenience
SD standard deviation

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