From target discovery to clinical drug development with human genetics
The substantial investments in human genetics and genomics made over the past three
decades were anticipated to result in many innovative therapies. Here we investigate the …
decades were anticipated to result in many innovative therapies. Here we investigate the …
Advancing human genetics research and drug discovery through exome sequencing of the UK Biobank
Abstract The UK Biobank Exome Sequencing Consortium (UKB-ESC) is a private–public
partnership between the UK Biobank (UKB) and eight biopharmaceutical companies that …
partnership between the UK Biobank (UKB) and eight biopharmaceutical companies that …
Multi-ancestry genome-wide association analyses identify novel genetic mechanisms in rheumatoid arthritis
Rheumatoid arthritis (RA) is a highly heritable complex disease with unknown etiology. Multi-
ancestry genetic research of RA promises to improve power to detect genetic signals, fine …
ancestry genetic research of RA promises to improve power to detect genetic signals, fine …
Host genetic factors determining COVID-19 susceptibility and severity
TP Velavan, SR Pallerla, J Rüter, Y Augustin… - …, 2021 - thelancet.com
The COVID-19 pandemic caused by the Severe Acute Respiratory Syndrome Coronavirus-2
(SARS-CoV-2) poses an unprecedented challenge to humanity. SARS-CoV-2 infections …
(SARS-CoV-2) poses an unprecedented challenge to humanity. SARS-CoV-2 infections …
From GWAS to function: using functional genomics to identify the mechanisms underlying complex diseases
E Cano-Gamez, G Trynka - Frontiers in genetics, 2020 - frontiersin.org
Genome-wide association studies (GWAS) have successfully mapped thousands of loci
associated with complex traits. These associations could reveal the molecular mechanisms …
associated with complex traits. These associations could reveal the molecular mechanisms …
Large-scale sequencing identifies multiple genes and rare variants associated with Crohn's disease susceptibility
Genome-wide association studies (GWASs) have identified hundreds of loci associated with
Crohn's disease (CD). However, as with all complex diseases, robust identification of the …
Crohn's disease (CD). However, as with all complex diseases, robust identification of the …
[HTML][HTML] Mapping ICD-10 and ICD-10-CM codes to phecodes: workflow development and initial evaluation
Background: The phecode system was built upon the International Classification of
Diseases, Ninth Revision, Clinical Modification (ICD-9-CM) for phenome-wide association …
Diseases, Ninth Revision, Clinical Modification (ICD-9-CM) for phenome-wide association …
Immune disease risk variants regulate gene expression dynamics during CD4+ T cell activation
B Soskic, E Cano-Gamez, DJ Smyth, K Ambridge… - Nature …, 2022 - nature.com
During activation, T cells undergo extensive gene expression changes that shape the
properties of cells to exert their effector function. Understanding the regulation of this …
properties of cells to exert their effector function. Understanding the regulation of this …
Protein kinases: drug targets for immunological disorders
L Castelo-Soccio, H Kim, M Gadina… - Nature Reviews …, 2023 - nature.com
Protein kinases play a major role in cellular activation processes, including signal
transduction by diverse immunoreceptors. Given their roles in cell growth and death and in …
transduction by diverse immunoreceptors. Given their roles in cell growth and death and in …
Autoimmune pathways in mice and humans are blocked by pharmacological stabilization of the TYK2 pseudokinase domain
JR Burke, L Cheng, KM Gillooly, J Strnad… - Science translational …, 2019 - science.org
TYK2 is a nonreceptor tyrosine kinase involved in adaptive and innate immune responses. A
deactivating coding variant has previously been shown to prevent receptor-stimulated …
deactivating coding variant has previously been shown to prevent receptor-stimulated …