Article
Expanded carrier screening using next-generation sequencing of 123 Hong Kong Chinese families: a pilot study.
Hong Kong medical journal = Xianggang yi xue za zhi - 1 Jun 2021
Chan O Y M, Leung T Y, Cao Y, Shi M M, Kwan A H W, Chung J P W, Choy K W, Chong S C
Abstract excerpt
INTRODUCTION: To determine the carrier frequency and common mutations of Mendelian variants in Chinese couples using next-generation sequencing (NGS). METHODS: Preconception expanded carrier testing using NGS was offered to women who attended the subfertility clinic. The test was then offered to the partners of women who had positive screening results. Carrier frequency was calculated, and the results of the NGS...
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