[HTML][HTML] Using genetic association data to guide drug discovery and development: review of methods and applications

S Burgess, AM Mason, AJ Grant, EAW Slob… - The American Journal of …, 2023 - cell.com
Evidence on the validity of drug targets from randomized trials is reliable but typically
expensive and slow to obtain. In contrast, evidence from conventional observational …

Targeting the CCL2–CCR2 axis for atheroprotection

MK Georgakis, J Bernhagen, LH Heitman… - European heart …, 2022 - academic.oup.com
Decades of research have established atherosclerosis as an inflammatory disease. Only
recently though, clinical trials provided proof-of-concept evidence for the efficacy of anti …

The next-generation Open Targets Platform: reimagined, redesigned, rebuilt

D Ochoa, A Hercules, M Carmona… - Nucleic acids …, 2023 - academic.oup.com
Abstract The Open Targets Platform (https://platform. opentargets. org/) is an open source
resource to systematically assist drug target identification and prioritisation using publicly …

Polygenic architecture of rare coding variation across 394,783 exomes

DJ Weiner, A Nadig, KA Jagadeesh, KK Dey, BM Neale… - Nature, 2023 - nature.com
Both common and rare genetic variants influence complex traits and common diseases.
Genome-wide association studies have identified thousands of common-variant …

Rare variant associations with plasma protein levels in the UK Biobank

RS Dhindsa, OS Burren, BB Sun, BP Prins, D Matelska… - Nature, 2023 - nature.com
Integrating human genomics and proteomics can help elucidate disease mechanisms,
identify clinical biomarkers and discover drug targets,,–. Because previous proteogenomic …

The sequences of 150,119 genomes in the UK Biobank

BV Halldorsson, HP Eggertsson, KHS Moore… - Nature, 2022 - nature.com
Detailed knowledge of how diversity in the sequence of the human genome affects
phenotypic diversity depends on a comprehensive and reliable characterization of both …

Genome-wide analyses of 200,453 individuals yield new insights into the causes and consequences of clonal hematopoiesis

SP Kar, PM Quiros, M Gu, T Jiang, J Mitchell… - Nature Genetics, 2022 - nature.com
Clonal hematopoiesis (CH), the clonal expansion of a blood stem cell and its progeny driven
by somatic driver mutations, affects over a third of people, yet remains poorly understood …

Disease prediction with multi-omics and biomarkers empowers case–control genetic discoveries in the UK Biobank

M Garg, M Karpinski, D Matelska, L Middleton… - Nature Genetics, 2024 - nature.com
The emergence of biobank-level datasets offers new opportunities to discover novel
biomarkers and develop predictive algorithms for human disease. Here, we present an …

Multi-ancestry genome-wide association analyses improve resolution of genes and pathways influencing lung function and chronic obstructive pulmonary disease risk

N Shrine, AG Izquierdo, J Chen, R Packer, RJ Hall… - Nature …, 2023 - nature.com
Lung-function impairment underlies chronic obstructive pulmonary disease (COPD) and
predicts mortality. In the largest multi-ancestry genome-wide association meta-analysis of …

Systematic single-variant and gene-based association testing of thousands of phenotypes in 394,841 UK Biobank exomes

KJ Karczewski, M Solomonson, KR Chao, JK Goodrich… - Cell genomics, 2022 - cell.com
Genome-wide association studies have successfully discovered thousands of common
variants associated with human diseases and traits, but the landscape of rare variations in …