Nicolas Bertin

High-throughput plasma proteomic platforms: Insights from a multi-ethnic Asian cohort

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

Polygenic Risk Scores Across Genomic Platforms for Reliable Breast Cancer Risk Stratification

This paper evaluates differences in a breast cancer polygenic risk score across genomic platforms and finds that calibration improves consistency in high-risk classification.

Scaling Precision Medicine: Singapore's PRECISE-SG100K Genomic Engine

The paper describes the development of a national genomic infrastructure in Singapore to scale precision medicine, achieving high throughput and operational efficiency in genome sequencing.

Nuclear regulatory disturbances precede and predict the development of Type-2 diabetes in Asian populations

The paper identifies DNA methylation biomarkers predictive of Type-2 diabetes in Asian populations and shows their utility in risk stratification.

Metabolome-wide association of carotid intima media thickness identifies FDX1 as a determinant of cholesterol metabolism and cardiovascular risk in Asian populations.

The variation landscape of CYP2D6 in a multi-ethnic Asian population

The paper analyzes CYP2D6 variation in a multi-ethnic Asian cohort, identifying population-specific star alleles and actionable variants with implications for pharmacogenomics.

RAPTOR: A Five-Safes approach to a secure, cloud native and serverless genomics data repository

RAPTOR provides a secure, cloud-native genomics repository with a five-safes framework to ensure compliance and data protection for genomic research.

Discovery of widespread transcription initiation at microsatellites predictable by sequence-based deep neural network.

The paper identifies widespread transcription initiation at microsatellites across species and develops deep learning models to predict STR-associated transcription and its impact on disease variants.

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

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

Large-scale whole-genome sequencing of three diverse Asian populations in Singapore

This study presents whole-genome sequencing data from 4,810 Singaporeans across three ethnic groups, revealing genetic structure, admixture, and improved imputation for Asian and Oceanian populations.

Linking FANTOM5 CAGE Peaks To Annotations With CAGEscan

The paper enhances the FANTOM5 expression atlas by associating gene-orphan promoter regions with their transcripts using CAGEscan.