Journal article

Population genomics in South East Asia captures unexpectedly high carrier frequency for treatable inherited disorders

Yasmin Bylstra, Jyn Ling Kuan, Weng Khong Lim, Jaydutt Digambar Bhalshankar, Jing Xian Teo, Sonia Davila, Bin Tean Teh, Steve Rozen, Ene-Choo Tan, Wendy Kein Meng Liew, Khung Keong Yeo, Patrick Tan, Vikrant Kumar, Christropher Blocker, Ryanne Wu, Angeline Lai, Ee Shien Tan, Ivy Ng, Breana Cham, Jiin Ying Lim Show all



PURPOSE: 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. RESULTS: Among 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 disea..

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Awarded by National Medical Research Council, Singapore

Awarded by Biomedical Research Council, Singapore

Awarded by National Medical Research Council, Ministry of Health, Republic of Singapore

Funding Acknowledgements

We thank the individuals and their families who volunteered for the genomic studies. SSJ is supported by the National Medical Research Council, Singapore (NMRC/CISSP/003/2016). Genomic sequencing of families at KKH was supported by a grant from Biomedical Research Council, Singapore (IAF 311019), NMRC/CNIG/1139/2015, NMRC/CNIG/1142/2015, Genome Institute of Singapore (Project SeqCDS) and NMRC/CG/006/2013 from the National Medical Research Council, Ministry of Health, Republic of Singapore. The genomic sequencing of Chinese adults in SEED was supported by NMRC/CIRG/1407/2014. We would like to thank the Lee Foundation for their grant support for the SingHEART study conducted at National Heart Centre Singapore. This work was supported by core funding from SingHealth and Duke-NUS through their Institute of Precision Medicine (PRISM).