Author

Sophia Tsong Huey Chew

Singapore General HospitalORCID 0000-0002-2960-177XUnclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Organism:human· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Alvin Yu Jin NgiD· 1 shared Astrid K IrwantoiD· 1 shared Benedict YaniD· 1 shared Claribel Tian Yu Foo· 1 shared Jianjun LiuiD· 1 shared Lian Kah TiiD· 1 shared Yi Hui To· 1 shared

Activity by Year

2022-2022 · peak 1/yr

Co-Author Collaboration Network

7 top collaborators · 21 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Alvin Yu Jin NgORCID

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1 paper

Recent·Most cited

Genetic & Genomic MedicineScientific ReportsPeer-reviewedMar 31, 2022

Variant landscape of the RYR1 gene based on whole genome sequencing of the Singaporean population

Claribel Tian Yu Foo, Yi Hui To, Astrid K Irwanto…·Lian Kah Ti

The paper describes the RYR1 variant landscape in a Singapore cohort using whole genome sequencing, identifying pathogenic variants and their allele frequencies across ethnic groups.

7 citations

humanwhole-genome sequencing

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