ArticleGenetics in medicine : official journal of the American College of Medical Genetics2019
Population genomics in South East Asia captures unexpectedly high carrier frequency for treatable inherited disorders.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 30 citations in OpenAlex.
- Designing National Programmes for Expanded Carrier Screening: Results from a Discrete-Choice Experiment in Singapore.The patient · 2026Article
- Translating genomic data into healthcare practice with the Singapore National Precision Medicine program.Nature genetics · 2026Review
- APASL clinical practice guidance: the diagnosis and management of patients with Wilson's disease.Hepatology international · 2026Article
- Global burden of Wilson disease: a comprehensive evidence synthesis.Orphanet journal of rare diseases · 2026Article
- Carrier frequency of autosomal recessive monogenic disorders in the peruvian population.Frontiers in genetics · 2026Article
- Information content as a health system screening tool for rare diseases.NPJ digital medicine · 2025Article
- [Genetic screening and follow-up results in 3 001 newborns in the Yunnan region].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2025Article
- Holocarboxylase Synthetase Deficiency: Clinical, Biochemical and Molecular Findings in Five Malaysian Patients Including a Newborn Presenting as Collodion Baby.JIMD reports · 2025Article
- Current Understanding of Pathogenic Mechanisms and Disease Models of Citrin Deficiency.Journal of inherited metabolic disease · 2025Review
- Deciphering the Mutational Background in Citrin Deficiency Through a Nationwide Study in Japan and Literature Review.Human mutation · 2025Article
- Investigating common mutations in ATP7B gene and the prevalence of Wilson's disease in the Thai population using population-based genome-wide datasets.Journal of human genetics · 2025Article
- Citrin deficiency-The East-side story.Journal of inherited metabolic disease · 2024Review
- Clinical landscape of citrin deficiency: A global perspective on a multifaceted condition.Journal of inherited metabolic disease · 2024Review
- Genomic Sequencing as a First-Tier Screening Test and Outcomes of Newborn Screening.JAMA network open · 2023Article
- Pathogenic variants of the mitochondrial aspartate/glutamate carrier causing citrin deficiency.Trends in endocrinology and metabolism: TEM · 2022Review
- Comprehensive analysis of recessive carrier status using exome and genome sequencing data in 1543 Southern Chinese.NPJ genomic medicine · 2022Article
- Clinical characteristics and genetic analysis of neonatal intrahepatic cholestasis caused by citrin deficiency in comparison with idiopathic neonatal cholestasis.Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences · 2021Article
- Genetic Studies of Hypertrophic Cardiomyopathy in Singaporeans Identify Variants inCirculation. Genomic and precision medicine · 2020Article
- Article
- Implementation of genomics in medical practice to deliver precision medicine for an Asian population.NPJ genomic medicine · 2019Review
Corrections and comments
- Erratum issued
Authors and funding
18 authors at 6 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeGenomic studies have demonstrated the necessity of ethnicity-specific population data to ascertain variant pathogenicity for disease diagnosis and treatment. This study examined the carrier prevalence of treatable inherited disorders (TIDs), where early diagnosis of at-risk offspring can significantly improve clinical outcomes.
methodsExisting exome/ genome sequencing data of 831 Singaporeans were aggregated and examined for disease causing variants in 104 genes associated with 80 TIDs.
resultsAmong the 831 Singaporean participants, genomic variant filtering and analysis identified 1 in 18 individuals (6%) to be carriers amongst one of 13 TIDs. Citrin deficiency and Wilson disease had the highest carrier frequency of 1 in 41, and 1 in 103 individuals, respectively. The pathogenic variants associated with citrin deficiency were 24 times more prevalent in our local cohorts when compared to Western cohorts.
conclusionThis study demonstrates the value of a population specific genomic database to determine true disease prevalence and has enabled the discovery of carrier frequencies of treatable genetic conditions specific to South East Asian populations, which are currently underestimated in existing data sources. This study framework can be adapted to other population groups and expanded to multiple genetic conditions to inform health policies directing precision medicine.
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