[HTML][HTML] Quantitative human paleogenetics: What can ancient DNA tell us about complex trait evolution?
Genetic association data from national biobanks and large-scale association studies have
provided new prospects for understanding the genetic evolution of complex traits and …
provided new prospects for understanding the genetic evolution of complex traits and …
[HTML][HTML] Mono-and biallelic variant effects on disease at biobank scale
Identifying causal factors for Mendelian and common diseases is an ongoing challenge in
medical genetics. Population bottleneck events, such as those that occurred in the history of …
medical genetics. Population bottleneck events, such as those that occurred in the history of …
[HTML][HTML] Long non-coding RNAs and their “discrete” contribution to IBD and Johne's disease—What stands out in the current picture? A comprehensive review
KA Triantaphyllopoulos - International Journal of Molecular Sciences, 2023 - mdpi.com
Non-coding RNAs (ncRNA) have paved the way to new perspectives on the regulation of
gene expression, not only in biology and medicine, but also in associated fields and …
gene expression, not only in biology and medicine, but also in associated fields and …
[PDF][PDF] 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 …
The first genome-wide association study for type 2 diabetes in youth: The Progress in Diabetes Genetics in Youth (ProDiGY) Consortium
The prevalence of type 2 diabetes in youth has increased substantially, yet the genetic
underpinnings remain largely unexplored. To identify genetic variants predisposing to youth …
underpinnings remain largely unexplored. To identify genetic variants predisposing to youth …
Smoking, alcohol consumption, and 24 gastrointestinal diseases: Mendelian randomization analysis
Background: Whether the positive associations of smoking and alcohol consumption with
gastrointestinal diseases are causal is uncertain. We conducted this Mendelian …
gastrointestinal diseases are causal is uncertain. We conducted this Mendelian …
[HTML][HTML] High-throughput genetic clustering of type 2 diabetes loci reveals heterogeneous mechanistic pathways of metabolic disease
Aims/hypothesis Type 2 diabetes is highly polygenic and influenced by multiple biological
pathways. Rapid expansion in the number of type 2 diabetes loci can be leveraged to …
pathways. Rapid expansion in the number of type 2 diabetes loci can be leveraged to …
[HTML][HTML] Genetic association studies of alterations in protein function expose recessive effects on cancer predisposition
The characterization of germline genetic variation affecting cancer risk, known as cancer
predisposition, is fundamental to preventive and personalized medicine. Studies of genetic …
predisposition, is fundamental to preventive and personalized medicine. Studies of genetic …
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 …
[HTML][HTML] Random forests algorithm boosts genetic risk prediction of systemic lupus erythematosus
Patients with systemic lupus erythematosus (SLE) present varied clinical manifestations,
posing a diagnostic challenge for physicians. Genetic factors substantially contribute to SLE …
posing a diagnostic challenge for physicians. Genetic factors substantially contribute to SLE …