Publications by authors named "Wendy Kein-Meng Liew"
Objective: Use next-generation sequencing (NGS) technology to improve our diagnostic yield in patients with suspected genetic disorders in the Asian setting.
Design: A diagnostic study conducted between 2014 and 2019 (and ongoing) under the Singapore Undiagnosed Disease Program. Date of last analysis was 1 July 2019.
At the time of publication the author Jyn Ling Kuan did not have a master's degree; this has now been amended to BSc. This has now been corrected in the PDF and HTML versions of the article.
View Article and Find Full Text PDFPurpose: Genomic 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.
Methods: Existing exome/ genome sequencing data of 831 Singaporeans were aggregated and examined for disease causing variants in 104 genes associated with 80 TIDs.
Article Synopsis
- The study investigates the prevalence of incidental findings (IFs) from genomic sequencing in an Asian population, specifically in Singapore, where prior data on IFs was limited.
- Researchers analyzed 377 individuals and found a high number of variants but narrowed it down to 14 potential variants after filtering for pathogenicity.
- The overall prevalence of pathogenic and likely pathogenic incidental findings was only 1.6%, suggesting that these findings may not significantly hinder the use of genomic sequencing for personalized medicine.
Ethanol is often used in sclerotherapy to treat vascular malformations. Nerve injury is a known complication of this procedure. However, the management of this complication is not well described in literature.
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