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 …

Polygenic embryo screening: are there potential maternal and fetal harms?

P Ginod, MH Dahan - Reproductive BioMedicine Online, 2023 - Elsevier
Polygenic embryo screening (PES) and its derivate the Embryo Health Score (EHS) has
generated interest in both infertile and fertile populations due to its potential ability to select …

Human genetics uncovers MAP3K15 as an obesity-independent therapeutic target for diabetes

A Nag, RS Dhindsa, J Mitchell, C Vasavda… - Science …, 2022 - science.org
We performed collapsing analyses on 454,796 UK Biobank (UKB) exomes to detect gene-
level associations with diabetes. Recessive carriers of nonsynonymous variants in …

TIGER: The gene expression regulatory variation landscape of human pancreatic islets

L Alonso, A Piron, I Morán, M Guindo-Martínez… - Cell reports, 2021 - cell.com
Genome-wide association studies (GWASs) identified hundreds of signals associated with
type 2 diabetes (T2D). To gain insight into their underlying molecular mechanisms, we have …

[HTML][HTML] Genetics of diabetes

S Goyal, J Rani, MA Bhat, V Vanita - World Journal of Diabetes, 2023 - ncbi.nlm.nih.gov
Diabetes mellitus is a complicated disease characterized by a complex interplay of genetic,
epigenetic, and environmental variables. It is one of the world's fastest-growing diseases …

Workshop proceedings: GWAS summary statistics standards and sharing

JAL MacArthur, A Buniello, LW Harris, J Hayhurst… - Cell Genomics, 2021 - cell.com
Genome-wide association studies (GWASs) have enabled robust mapping of complex traits
in humans. The open sharing of GWAS summary statistics (SumStats) is essential in …

Recessive genome-wide meta-analysis illuminates genetic architecture of type 2 diabetes

MJ O'Connor, P Schroeder, A Huerta-Chagoya… - Diabetes, 2022 - Am Diabetes Assoc
Most genome-wide association studies (GWAS) of complex traits are performed using
models with additive allelic effects. Hundreds of loci associated with type 2 diabetes have …

Influence of diabetes family history on the associations of combined genetic and lifestyle risks with diabetes in the tohoku medical megabank community-based cohort …

M Takase, N Nakaya, T Nakamura… - … of Atherosclerosis and …, 2023 - jstage.jst.go.jp
Aim: The influence of family history of diabetes, probably reflecting genetic and lifestyle
factors, on the association of combined genetic and lifestyle risks with diabetes is unknown …

A human-based multi-gene signature enables quantitative drug repurposing for metabolic disease

JA Timmons, A Anighoro, RJ Brogan, J Stahl… - Elife, 2022 - elifesciences.org
Insulin resistance (IR) contributes to the pathophysiology of diabetes, dementia, viral
infection, and cardiovascular disease. Drug repurposing (DR) may identify treatments for IR; …

From mouse to human

A Mani - Elife, 2023 - elifesciences.org
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