Expanded carrier screening using next-generation sequencing of 123 Hong Kong Chinese families: a pilot study.

CONCLUSION: The carrier frequency of the investigated members of the Chinese population was 58.7% overall and 47.6% after excluding thalassaemias. This frequency is higher than previously reported. Expanded carrier screening using NGS should be provided to Chinese people to improve the detection rate of carrier status and allow optimal pregnancy planning. PMID: 33602879 [PubMed - as supplied by publisher]
Source: Hong Kong Medical Journal - Category: General Medicine Tags: Hong Kong Med J Source Type: research