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 …

Hemoglobin A1c—Using Epidemiology to Guide Medical Practice: Kelly West Award Lecture 2020

E Selvin - Diabetes Care, 2021 - Am Diabetes Assoc
The discovery that HbA1c was a valid and reliable measure of average glucose exposure
was one of the most important advances in diabetes care. HbA1c was rapidly adopted for …

HbA1c performance in African descent populations in the United States with normal glucose tolerance, prediabetes, or diabetes: a scoping review

L Khosla, S Bhat, LA Fullington… - 2021 - academicworks.cuny.edu
IntroductionAfrican descent populations in the United States have high rates of type 2
diabetes and are incorrectly represented as a single group. Current glycated hemoglobin …

A combined polygenic score of 21,293 rare and 22 common variants improves diabetes diagnosis based on hemoglobin A1C levels

P Dornbos, R Koesterer, A Ruttenburg, T Nguyen… - Nature …, 2022 - nature.com
Polygenic scores (PGSs) combine the effects of common genetic variants, to predict risk or
treatment strategies for complex diseases,,,–. Adding rare variation to PGSs has largely …

Comprehensive characterization of protein–protein interactions perturbed by disease mutations

F Cheng, J Zhao, Y Wang, W Lu, Z Liu, Y Zhou… - Nature …, 2021 - nature.com
Technological and computational advances in genomics and interactomics have made it
possible to identify how disease mutations perturb protein–protein interaction (PPI) networks …

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 …

[HTML][HTML] The Type 2 Diabetes Knowledge Portal: An open access genetic resource dedicated to type 2 diabetes and related traits

MC Costanzo, M von Grotthuss, J Massung, D Jang… - Cell metabolism, 2023 - cell.com
Associations between human genetic variation and clinical phenotypes have become a
foundation of biomedical research. Most repositories of these data seek to be disease …

The contribution of common and rare genetic variants to variation in metabolic traits in 288,137 East Asians

YJ Kim, S Moon, MY Hwang, S Han, HM Jang… - Nature …, 2022 - nature.com
Metabolic traits are heritable phenotypes widely-used in assessing the risk of various
diseases. We conduct a genome-wide association analysis (GWAS) of nine metabolic traits …

Novel genetic loci associated with osteoarthritis in multi-ancestry analyses in the Million Veteran Program and UK Biobank

MLN McDonald, P Lakshman Kumar… - Nature Genetics, 2022 - nature.com
Osteoarthritis is a common progressive joint disease. As no effective medical interventions
are available, osteoarthritis often progresses to the end stage, in which only surgical options …

Valid inference for machine learning-assisted genome-wide association studies

J Miao, Y Wu, Z Sun, X Miao, T Lu, J Zhao, Q Lu - Nature Genetics, 2024 - nature.com
Abstract Machine learning (ML) has become increasingly popular in almost all scientific
disciplines, including human genetics. Owing to challenges related to sample collection and …