Global Biobank Meta-analysis Initiative: Powering genetic discovery across human disease

W Zhou, M Kanai, KHH Wu, H Rasheed, K Tsuo… - Cell Genomics, 2022 - cell.com
Biobanks facilitate genome-wide association studies (GWASs), which have mapped
genomic loci across a range of human diseases and traits. However, most biobanks are …

Harnessing Artificial Intelligence in Multimodal Omics Data Integration: Paving the Path for the Next Frontier in Precision Medicine

Y Nam, J Kim, SH Jung, J Woerner… - Annual Review of …, 2024 - annualreviews.org
The integration of multiomics data with detailed phenotypic insights from electronic health
records marks a paradigm shift in biomedical research, offering unparalleled holistic views …

From pharmacogenetics to pharmaco-omics: Milestones and future directions

C Auwerx, MC Sadler, A Reymond, Z Kutalik - Human Genetics and …, 2022 - cell.com
The origins of pharmacogenetics date back to the 1950s, when it was established that inter-
individual differences in drug response are partially determined by genetic factors. Since …

Cross-ancestry investigation of venous thromboembolism genomic predictors

F Thibord, D Klarin, JA Brody, MH Chen, MG Levin… - Circulation, 2022 - Am Heart Assoc
Background: Venous thromboembolism (VTE) is a life-threatening vascular event with
environmental and genetic determinants. Recent VTE genome-wide association studies …

A robust cis-Mendelian randomization method with application to drug target discovery

Z Lin, W Pan - Nature Communications, 2024 - nature.com
Mendelian randomization (MR) uses genetic variants as instrumental variables (IVs) to
investigate causal relationships between traits. Unlike conventional MR, cis-MR focuses on …

Statistically and functionally fine-mapped blood eQTLs and pQTLs from 1,405 humans reveal distinct regulation patterns and disease relevance

QS Wang, T Hasegawa, H Namkoong, R Saiki… - Nature Genetics, 2024 - nature.com
Studying the genetic regulation of protein expression (through protein quantitative trait loci
(pQTLs)) offers a deeper understanding of regulatory variants uncharacterized by mRNA …

A practical guideline of genomics-driven drug discovery in the era of global biobank meta-analysis

S Namba, T Konuma, KH Wu, W Zhou, Y Okada - Cell Genomics, 2022 - cell.com
Genomics-driven drug discovery is indispensable for accelerating the development of novel
therapeutic targets. However, the drug discovery framework based on evidence from …

Genetic associations of circulating cardiovascular proteins with gestational hypertension and preeclampsia

A Schuermans, B Truong, M Ardissino… - JAMA …, 2024 - jamanetwork.com
Importance Hypertensive disorders of pregnancy (HDPs), including gestational hypertension
and preeclampsia, are important contributors to maternal morbidity and mortality worldwide …

Best practices for multi-ancestry, meta-analytic transcriptome-wide association studies: lessons from the Global Biobank Meta-analysis Initiative

A Bhattacharya, JB Hirbo, D Zhou, W Zhou, J Zheng… - Cell genomics, 2022 - cell.com
Summary The Global Biobank Meta-analysis Initiative (GBMI), through its diversity, provides
a valuable opportunity to study population-wide and ancestry-specific genetic associations …

Application of proteomics for novel drug discovery and risk prediction optimisation in stroke and myocardial infarction: a review of in-human studies

RJ Webb, M Al-Asmakh, M Banach, M Mazidi - Drug Discovery Today, 2024 - Elsevier
The use of proteomics in human studies investigating stroke and myocardial infarction (MI)
has been increasing, prompting a review of the literature. This revealed proteinaceous …