Browsing: genomic

The Singapore National Precision Medicine (NPM) program is a three-phase whole-of-nation effort designed to develop scalable, evidence-based solutions for precision health tailored to Asia’s diverse populations. Here we present NPM phase II (2020–2025), highlighting how large-scale precision medicine initiatives can drive new research insights, enable healthcare innovations and create economic value. Key achievements include the…

Rare and undiagnosed diseases pose diagnostic challenges due to phenotypic and genetic heterogeneity and the limitations of conventional molecular testing. As part of the RareBoost project, we implemented an integrated, stepwise genomic strategy in a cohort of 134 patients from 120 families with previously inconclusive genetic testing. Our strategy combined systematic exome sequencing with subsequent…