ArticleHuman genomics2018
Secondary findings in 421 whole exome-sequenced Chinese children.
Article in Human genomics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed.
- The prevalence of pathogenic variants in medically actionable genes among individuals with idiopathic hypogonadotropic hypogonadism/Kallmann syndrome.Journal of assisted reproduction and genetics · 2026Article
- ACMG-Recommended Actionable Secondary Findings from 1600 Clinical Exomes in the South Marmara Region in Turkiye.International journal of molecular sciences · 2026Article
- Developing a genetic return of results service core.Journal of clinical and translational science · 2025Article
- Assessment of whole-exome sequencing results in neurogenetic diseases.Journal of human genetics · 2023Article
- Clinically actionable secondary findings in 130 triads from sub-Saharan African families with non-syndromic orofacial clefts.Molecular genetics & genomic medicine · 2023Article
- Secondary findings in a large Pakistani cohort tested with whole genome sequencing.Life science alliance · 2023Article
- The Singapore National Precision Medicine Strategy.Nature genetics · 2023Review
- Analysis of clinically relevant variants from ancestrally diverse Asian genomes.Nature communications · 2022Article
- Actionable secondary findings following exome sequencing of 836 non-obstructive azoospermia cases and their value in patient management.Human reproduction (Oxford, England) · 2022Article
- Novel LTBP3 mutations associated with thoracic aortic aneurysms and dissections.Orphanet journal of rare diseases · 2021Article
- Bridging the Gap between Scientific Advancement and Real-World Application: Pediatric Genetic Counseling for Common Syndromes and Single-Gene Disorders.Cold Spring Harbor perspectives in medicine · 2020Review
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Authors and funding
11 authors.
Funding
Abstract
backgroundVariants with known or possible pathogenicity located in genes that are unrelated to primary disease conditions are defined as secondary findings. Secondary findings are not the primary targets of whole exome and genome sequencing (WES/WGS) assay but can be of great practical value in early disease prevention and intervention. The driving force for this study was to investigate the impact of racial difference and disease background on secondary findings. Here, we analyzed secondary findings frequencies in 421 whole exome-sequenced Chinese children who are phenotypically normal or bear congenital heart diseases/juvenile obesity. In total, 421 WES datasets were processed for potential deleterious variant screening. A reference gene list was defined according to the American College of Medical Genetics and Genomics (ACMG) recommendations for reporting secondary findings v2.0 (ACMG SF v2.0). The variant classification was performed according to the evidence-based guidelines recommended by the joint consensus of the ACMG and the Association for Molecular Pathology (AMP).
resultsAmong the 421 WES datasets, we identified 11 known/expected pathogenic variants in 12 individuals, accounting for 2.85% of our samples, which is much higher than the reported frequency in a Caucasian population. In conclusion, secondary findings are not so rare in Chinese children, which means that we should pay more attention to the clinical interpretation of sequencing results.
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