Paper

National Scale Genomic Engine for Precision Medicine: Singapore PRECISE-SG100K Experience

Koh, Tat Hung, Kolle, Gabriel, Yao, Jiali, Bertin, Nicolas, Yin Tong, Terry Yoke, Meah, Wee Yang, Alberts, Rudi, Lim, Sherilyn, Xie, Zhicheng, Toro Jimenez, Rodrigo, Wong, Eleanor, Chambers, John C, Yong, Jacklyn, Alexandrine Lin, Bitong Clarabelle, Chee, Miao Ling, Khor, Chiea Chuen, Yeo, Khung Keong, Heng, Khai Koon, Cheng, Ching-Yu, Sunmugam, Shakita D/O, Kerk, Swat Kim, Cheng, Paul CP, Chen, Xiao Yin, Ting Lim, Erin Yi, Sim, Xueling, Tan, Patrick, Hebrard, Maxime, Leong, Siew Hong, Zheng, Weiling, Tai, E Shyong, Ow, Jack Ling, Bellis, Claire

2025

Overview

Precision medicine (PM) research in recent years has witnessed a remarkable surge in large-scale population genomics programs. In 2017, Singapore initiated the National Precision Medicine (NPM) program, a three-phase national strategy driving PM research, innovation, and enterprise capitalizing on Singapore’s unique multi-ancestral Asian population. Coordinated by Precision Health Research, Singapore (PRECISE), NPM Phase I assembled an Asian reference genome of 10,000 individuals completed using highly manual and laborious laboratory sample workflows. NPM Phase II, targeting a 100,000 population cohort (PRECISE-SG100K), required the transformation of the genome sequencing workflow to a production-scale operation leveraging high-throughput automation and robotics. Here we share detailed technical blueprints for implementing and maintaining Singapore’s PRECISE-SG100K Genomic Engine, learning from and overcoming Phase I’s pain-points and bottlenecks. The Genomic Engine allowed the successful scale up of genomic sequencing and throughput, enabling the anticipated completion of sequencing of 100,000 whole genomes in three years.

• Publisher: Cold Spring Harbor Laboratory
• Subject: Genomics