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 | DOI:10.12809/hkmj208486

Source: Hong Kong Med J - February 19, 2021 Category: General Medicine Authors: O Y M Chan T Y Leung Y Cao M M Shi A H W Kwan J P W Chung K W Choy S C Chong Source Type: research