Comprehensive analysis of recessive carrier status using exome and genome sequencing data in 1543 Southern Chinese

Comprehensive analysis of recessive carrier status using exome and genome sequencing data in 1543 Southern Chinese

Abstract Traditional carrier screening has been utilized for the detection of carriers of genetic disorders. Since a comprehensive assessment of the carrier frequencies of recessive conditions in the Southern Chinese population is not yet available, we performed a secondary analysis on the spectrum...

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Bibliographic Details
Main Authors: Jeffrey Fong Ting Chau, Mullin Ho Chung Yu, Martin Man Chun Chui, Cyrus Chun Wing Yeung, Aaron Wing Cheung Kwok, Xuehan Zhuang, Ryan Lee, Jasmine Lee Fong Fung, Mianne Lee, Christopher Chun Yu Mak, Nicole Ying Ting Ng, Claudia Ching Yan Chung, Marcus Chun Yin Chan, Mandy Ho Yin Tsang, Joshua Chun Ki Chan, Kelvin Yuen Kwong Chan, Anita Sik Yau Kan, Patrick Ho Yu Chung, Wanling Yang, So Lun Lee, Godfrey Chi Fung Chan, Paul Kwong Hang Tam, Yu Lung Lau, Kit San Yeung, Brian Hon Yin Chung, Clara Sze Man Tang
Format: Article
Language:English
Published: Nature Portfolio 2022-03-01
Series:npj Genomic Medicine
Online Access:https://doi.org/10.1038/s41525-022-00287-z

Internet

https://doi.org/10.1038/s41525-022-00287-z

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