Evaluating genetic ancestry and self-reported ethnicity in the context of carrier screening

BMC Genomic Data

Table 3 Carrier rates by genetic ancestry

Sickle Cell Anemia
	carrier rate < threshold	carrier rate > threshold	p-value	African Ancestry Threshold (80th percentile)
African	6.760%	15.741%	0.00605	93.439%
Latin American	1.261%	4.587%	0.00372	18.677%
Cystic Fibrosis
	carrier rate < threshold	carrier rate > threshold	p-value	European Ancestry Threshold (80th percentile)
African	1.631%	6.482%	0.01095	19.928%
Latin American	1.606%	3.670%	0.06128	68.715%
GJB2-Related Nonsyndromic Hearing Loss
	carrier rate < threshold	carrier rate > threshold	p-value	European Ancestry Threshold (80th percentile)
African	1.399%	5.556%	0.01870	19.928%
Latin American	3.440%	3.670%	0.83750	68.715%

Differences in carrier rates of sickle sell anemia, cystic fibrosis, and GJB2-related nonsyndromic hearing loss by proportion of African and European ancestry among self-reported Africans and Latin Americans. For each group, an ancestry threshold was chosen by computing the 80th percentile of ancestry proportion. For example the 80th percentile of African ancestry among Latin Americans is 18.68%. Thus, the carrier rate of sickle cell anemia of Latin Americans below this threshold is 1.261% and the carrier rate above it is 4.587%. P-values were computed using Fisher’s exact test

ISSN: 2730-6844