Saumya Shekhar Jamuar

The paper describes the implementation of a reproductive carrier screening program in Singapore, focusing on diverse Asian populations and highlighting community engagement and initial outcomes.

RD-Embed improves rare-disease diagnosis by aligning clinical text and SNOMED codes through a three-stage framework, achieving better retrieval performance than existing models.

This study reviews population preferences for expanded carrier screening programs and finds a median willingness-to-pay of $107 for screening.

The paper compares three proteomic platforms in a multi-ethnic Asian cohort, finding limited overlap, platform-specific performance metrics, and ethnicity-related protein differences.

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

StarPhase diplotypes 21 pharmacogenes using long-read sequencing with high accuracy, updating 26.2% of existing diplotypes and highlighting gaps in pharmacogenomic databases.

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

The paper curates 164 gene-disease pairs for hearing loss, classifying their clinical validity to improve genetic testing accuracy.