Maximizing treatment efficacy through patient stratification in neuropathic pain trials

R Baron, AH Dickenson, M Calvo, SD Dib-Hajj… - Nature Reviews …, 2023 - nature.com
Abstract Treatment of neuropathic pain remains inadequate despite the elucidation of
multiple pathophysiological mechanisms and the development of promising therapeutic …

FinnGen provides genetic insights from a well-phenotyped isolated population

MI Kurki, J Karjalainen, P Palta, TP Sipilä… - Nature, 2023 - nature.com
Population isolates such as those in Finland benefit genetic research because deleterious
alleles are often concentrated on a small number of low-frequency variants (0.1%≤ minor …

FinnGen: Unique genetic insights from combining isolated population and national health register data

MI Kurki, J Karjalainen, P Palta, TP Sipilä… - MedRxiv, 2022 - medrxiv.org
Population isolates such as Finland provide benefits in genetic studies because the allelic
spectrum of damaging alleles in any gene is often concentrated on a small number of low …

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 …

[PDF][PDF] 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 …

TTD: Therapeutic Target Database describing target druggability information

Y Zhou, Y Zhang, D Zhao, X Yu, X Shen… - Nucleic acids …, 2024 - academic.oup.com
Target discovery is one of the essential steps in modern drug development, and the
identification of promising targets is fundamental for developing first-in-class drug. A variety …

The Finnish genetic heritage in 2022–from diagnosis to translational research

J Uusimaa, J Kettunen, T Varilo… - Disease Models & …, 2022 - journals.biologists.com
Isolated populations have been valuable for the discovery of rare monogenic diseases and
their causative genetic variants. Finnish disease heritage (FDH) is an example of a group of …

RNA editing underlies genetic risk of common inflammatory diseases

Q Li, MJ Gloudemans, JM Geisinger, B Fan, F Aguet… - Nature, 2022 - nature.com
A major challenge in human genetics is to identify the molecular mechanisms of trait-
associated and disease-associated variants. To achieve this, quantitative trait locus (QTL) …

Polygenic prediction of preeclampsia and gestational hypertension

MC Honigberg, B Truong, RR Khan, B Xiao, L Bhatta… - Nature medicine, 2023 - nature.com
Preeclampsia and gestational hypertension are common pregnancy complications
associated with adverse maternal and child outcomes. Current tools for prediction …

Refining the impact of genetic evidence on clinical success

EV Minikel, JL Painter, CC Dong, MR Nelson - Nature, 2024 - nature.com
The cost of drug discovery and development is driven primarily by failure, with only about
10% of clinical programmes eventually receiving approval,–. We previously estimated that …