ArticleJournal of human genetics2021
Actionable secondary findings in 1116 Hong Kong Chinese based on exome sequencing data.
Article in Journal of human genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers, 1 of them a synthesis that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
4 citing papers in PubMed, 1 synthesis or guideline pooled it, 7 citations in OpenAlex.
- Secondary findings in hereditary cancer genes after germline genetic testing - systematic review of literature.Human genetics · 2025Pooled it
- Population-scale genomic medicine with the Hong Kong Genome Project.Nature medicine · 2026Article
- Landscape of Secondary Findings in Chinese Population: A Practice of ACMG SF v3.0 List.Journal of personalized medicine · 2022Article
- Comprehensive analysis of recessive carrier status using exome and genome sequencing data in 1543 Southern Chinese.NPJ genomic medicine · 2022Article
Corrections and comments
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Authors and funding
15 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The use of exome and genome sequencing has increased rapidly nowadays. After primary analysis, further analysis can be performed to identify secondary findings that offer medical benefit for patient care. Multiple studies have been performed to evaluate secondary findings in different ethnicities. However, relevant data are limited in Chinese. Here, with the use of a cohort consisted of 1116 Hong Kong Chinese exome sequencing data, we evaluated the secondary findings in the 59 genes recommended by the American College of Medical Genetics and Genomics. Fifteen unique pathogenic or likely pathogenic variants in 17 individuals were identified, representing a frequency of 1.52% in our cohort. Although 20 individuals harboured pathogenic or likely pathogenic variants in recessive conditions, none carried bi-allelic mutations in the same gene. Our finding was in accordance with the estimation from the American College of Medical Genetics and Genomics that about 1% individuals harbour secondary findings.
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