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

21 Mar 2022

Abstract excerpt

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 and carrier status for 315 genes causing autosomal recessive disorders in 1543 Southern Chinese individuals with...

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PMID: 35314707
DOI: 10.1038/s41525-022-00287-z

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