Genome Institute of Singapore

Implementing reproductive carrier screening to include diverse Asian populations: insights from Singapore

Abstract Background As part of Singapore’s effort towards precision medicine tailored to Asian diversity, we describe the implementation of a nationwide reproductive carrier screening program. Using a customised 112-gene panel, targeting population-specific recessive genetic dise...

Targeting chondroitin synthase 1 attenuates hyperplastic arterial remodeling via gene therapy

Chondroitin sulfate glycosaminoglycans accumulate excessively in the extracellular matrix during pathological remodeling and exacerbate cardiovascular deterioration. Here we show that chondroitin synthase 1 (CHSY1) is the primary enzyme responsible for chondroitin sulfate synthes...

Genomic and transcriptomic landscape of spread through air spaces in stage 1 lung adenocarcinoma

INTRODUCTION: Spread through air spaces (STAS) is an adverse histologic feature in early-stage lung adenocarcinoma (LUAD) incorporated into the ninth edition TNM staging. Despite its clinical significance, the molecular features underlying STAS in stage 1 LUAD remain incompletely...

Telomere variant sequences encode the genetic blueprint for allele-specific telomere length

The ends of human chromosomes are capped by specialized nucleoprotein structures, termed telomeres, which are essential for genome stability. Recent advances in long-read sequencing have enabled allele-specific telomere length measurements at nucleotide resolution, uncovering ext...

“Swab-and-Stain” Nanoparticle Assay for Detection of PBP2a-Expressing Methicillin-Resistant Staphylococcus aureus Toward Point-of-Need Environmental Surveillance

Surveillance of methicillin-resistant Staphylococcus aureus (MRSA) in the environment is crucial for reducing its transmission, particularly in hospitals, nursing homes, and high-contact public areas. Rapid Point-of-Need (PON) tools at healthcare facilities, without involving pro...

Hunting for microsatellite instability in long-read data with Owl

Abstract Microsatellite instability (MSI) is a key biomarker of mismatch repair deficiency and response to immunotherapy, yet most existing genomic detection methods are optimized for short-read sequencing and rely on small panels of homopolymer markers, limiting the ability to c...

Beyond benchmarking: an expert-guided consensus approach to spatially aware clustering

Spatial omics technologies have revolutionized the study of tissue architecture and cellular heterogeneity by integrating molecular profiles with spatial localization. In spatially resolved transcriptomics, delineating higher-order anatomical structures is critical for understand...