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

Roman ShragaSarah YarnallSonya ElangoArun ManoharanSally Ann RodriguezSara L BristowNeha KumarMohammad NiknazarDavid HoffmanShahin GhadirRita VassenaSerena H ChenAvner HershlagJamie GrifoOscar Puig

Published in: BMC genetics (2017)

Our analysis highlights the unreliability of ethnicity classification based on patient self-reports. We recommend the routine use of pan-ethnic carrier screening panels in reproductive medicine. Furthermore, the use of an ancestry model would allow better estimation of carrier rates and residual risks.

Keyphrases

machine learning
deep learning
case report
genome wide association study
genome wide
human health
emergency department
dna methylation
gene expression
copy number