Author

Sylvia Kam

SingHealthORCID 0000-0001-7704-1917Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genomics· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:database / resource· 1 Research Focus:differential expression· 1 Research Focus:variant calling· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Saumya Shekhar JamuariD· 2 shared Ada HamoshiD· 1 shared Aditi Chawla· 1 shared Ai Ling KohiD· 1 shared Akanchha KesariiD· 1 shared Alicia B. ByrneiD· 1 shared Alison J. CoffeyiD· 1 shared Alka MalhotraiD· 1 shared

Activity by Year

2021-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Saumya Shekhar JamuarORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicineGenetics in Medicine OpenPeer-reviewedJan 1, 2025

The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease Relationships

Eleanor C Broeren, Vanessa N. Gitau, Alicia B. Byrne…·Alison J. Coffey

The paper curates 111 gene-disease relationships for syndromic disorders, classifying their clinical validity and identifying gaps in knowledge.

1 citation

humanstatistical model

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GenomicsGenome MedicinePeer-reviewedJan 7, 2021

Family History Assessment Significantly Enhances Delivery of Precision Medicine in the Genomics Era

Yasmin M. Bylstra, Weng Khong Lim, Sylvia Kam…·Patrick B. O. Tan

This study shows that family history collection improves the detection of pathogenic variants in genomic data, enhancing precision medicine by identifying high-risk individuals.

43 citationstop 5%

humanwhole-genome sequencing

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