The Singapore national precision medicine strategy

E Wong, N Bertin, M Hebrard, R Tirado-Magallanes… - Nature Genetics, 2023 - nature.com
Precision medicine promises to transform healthcare for groups and individuals through
early disease detection, refining diagnoses and tailoring treatments. Analysis of large-scale …

The trans-ancestral genomic architecture of glycemic traits

J Chen, CN Spracklen, G Marenne, A Varshney… - Nature …, 2021 - nature.com
Glycemic traits are used to diagnose and monitor type 2 diabetes and cardiometabolic
health. To date, most genetic studies of glycemic traits have focused on individuals of …

Leveraging fine-mapping and multipopulation training data to improve cross-population polygenic risk scores

O Weissbrod, M Kanai, H Shi, S Gazal, WJ Peyrot… - Nature Genetics, 2022 - nature.com
Polygenic risk scores suffer reduced accuracy in non-European populations, exacerbating
health disparities. We propose PolyPred, a method that improves cross-population …

Multi-ancestry genome-wide association study of gestational diabetes mellitus highlights genetic links with type 2 diabetes

N Pervjakova, GH Moen, MC Borges… - Human Molecular …, 2022 - academic.oup.com
Gestational diabetes mellitus (GDM) is associated with increased risk of pregnancy
complications and adverse perinatal outcomes. GDM often reoccurs and is associated with …

The role of electronic health records in advancing genomic medicine

JE Linder, L Bastarache, JJ Hughey… - Annual review of …, 2021 - annualreviews.org
Recent advances in genomic technology and widespread adoption of electronic health
records (EHRs) have accelerated the development of genomic medicine, bringing promising …

Genotyping and population characteristics of the China Kadoorie Biobank

RG Walters, IY Millwood, K Lin, DS Valle, P McDonnell… - Cell Genomics, 2023 - cell.com
Summary The China Kadoorie Biobank (CKB) is a population-based prospective cohort of>
512,000 adults recruited from 2004 to 2008 from 10 geographically diverse regions across …

Integrating polygenic risk scores in the prediction of type 2 diabetes risk and subtypes in British Pakistanis and Bangladeshis: A population-based cohort study

S Hodgson, QQ Huang, N Sallah… - PLoS …, 2022 - journals.plos.org
Background Type 2 diabetes (T2D) is highly prevalent in British South Asians, yet they are
underrepresented in research. Genes & Health (G&H) is a large, population study of British …

PAX4 loss of function increases diabetes risk by altering human pancreatic endocrine cell development

HH Lau, NAJ Krentz, F Abaitua… - Nature …, 2023 - nature.com
The coding variant (p. Arg192His) in the transcription factor PAX4 is associated with an
altered risk for type 2 diabetes (T2D) in East Asian populations. In mice, Pax4 is essential for …

[PDF][PDF] Leveraging fine-mapping and non-European training data to improve trans-ethnic polygenic risk scores

O Weissbrod, M Kanai, H Shi, S Gazal, W Peyrot… - MedRxiv, 2021 - scholar.archive.org
Polygenic risk scores (PRS) based on European training data suffer reduced accuracy in
non-European target populations, exacerbating health disparities. This loss of accuracy …

Pan-UK Biobank GWAS improves discovery, analysis of genetic architecture, and resolution into ancestry-enriched effects

KJ Karczewski, R Gupta, M Kanai, W Lu, K Tsuo… - medRxiv, 2024 - medrxiv.org
Large biobanks, such as the UK Biobank (UKB), enable massive phenome by genome-wide
association studies that elucidate genetic etiology of complex traits. However, individuals …