AI-powered therapeutic target discovery

FW Pun, IV Ozerov, A Zhavoronkov - Trends in pharmacological sciences, 2023 - cell.com
Disease modeling and target identification are the most crucial initial steps in drug
discovery, and influence the probability of success at every step of drug development …

[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 …

Systematic differences in discovery of genetic effects on gene expression and complex traits

H Mostafavi, JP Spence, S Naqvi, JK Pritchard - Nature Genetics, 2023 - nature.com
Most signals in genome-wide association studies (GWAS) of complex traits implicate
noncoding genetic variants with putative gene regulatory effects. However, currently …

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 …

Single-nucleus cross-tissue molecular reference maps toward understanding disease gene function

G Eraslan, E Drokhlyansky, S Anand, E Fiskin… - Science, 2022 - science.org
Understanding gene function and regulation in homeostasis and disease requires
knowledge of the cellular and tissue contexts in which genes are expressed. Here, we …

Combining SNP-to-gene linking strategies to identify disease genes and assess disease omnigenicity

S Gazal, O Weissbrod, F Hormozdiari, KK Dey… - Nature Genetics, 2022 - nature.com
Disease-associated single-nucleotide polymorphisms (SNPs) generally do not implicate
target genes, as most disease SNPs are regulatory. Many SNP-to-gene (S2G) linking …

Genome-wide association analyses define pathogenic signaling pathways and prioritize drug targets for IgA nephropathy

K Kiryluk, E Sanchez-Rodriguez, XJ Zhou, F Zanoni… - Nature …, 2023 - nature.com
IgA nephropathy (IgAN) is a progressive form of kidney disease defined by glomerular
deposition of IgA. Here we performed a genome-wide association study of 10,146 kidney …

New insights from the last decade of research in psychiatric genetics: discoveries, challenges and clinical implications

OA Andreassen, GFL Hindley, O Frei… - World …, 2023 - Wiley Online Library
Psychiatric genetics has made substantial progress in the last decade, providing new
insights into the genetic etiology of psychiatric disorders, and paving the way for precision …

Precise identification of cell states altered in disease using healthy single-cell references

E Dann, AM Cujba, AJ Oliver, KB Meyer… - Nature Genetics, 2023 - nature.com
Joint analysis of single-cell genomics data from diseased tissues and a healthy reference
can reveal altered cell states. We investigate whether integrated collections of data from …

Molecular quantitative trait loci

F Aguet, K Alasoo, YI Li, A Battle, HK Im… - Nature Reviews …, 2023 - nature.com
Understanding functional effects of genetic variants is one of the key challenges in human
genetics, as much of disease-associated variation is located in non-coding regions with …