Refining the impact of genetic evidence on clinical success
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 …
10% of clinical programmes eventually receiving approval,–. We previously estimated that …
Polygenic embryo screening: are there potential maternal and fetal harms?
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 …
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
We performed collapsing analyses on 454,796 UK Biobank (UKB) exomes to detect gene-
level associations with diabetes. Recessive carriers of nonsynonymous variants in …
level associations with diabetes. Recessive carriers of nonsynonymous variants in …
TIGER: The gene expression regulatory variation landscape of human pancreatic islets
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 …
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 …
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 …
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 …
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 …
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; …
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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