Autor: Liu, S., Cao, L., Zhang, V. W., Huang, S., Liu, H., Wei, X., Luo, Y., Li, Y., Zhou, L., Jiang, L., Zhu, Q., Liu, H.
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Expanded carrier screening in a Southwestern Chinese population indicates East Asian specific low-frequency pathogenic variants account for nearly half of the at-risk couple rate
BackgroundThe optimal disease spectrum for carrier screening (CS) remains debated. We aimed to characterise the carrier landscape and quantify the at-risk couple rate (ACR) components in a Chinese population to guide panel design.MethodsUsing a 334-gen…