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Pleiotropy, epistasis and the genetic architecture of quantitative traits
TFC Mackay, RRH Anholt - Nature Reviews Genetics, 2024 - nature.com
Pleiotropy (whereby one genetic polymorphism affects multiple traits) and epistasis
(whereby non-linear interactions between genetic polymorphisms affect the same trait) are …
(whereby non-linear interactions between genetic polymorphisms affect the same trait) are …
Advancing the use of genome-wide association studies for drug repurposing
Genome-wide association studies (GWAS) have revealed important biological insights into
complex diseases, which are broadly expected to lead to the identification of new drug …
complex diseases, which are broadly expected to lead to the identification of new drug …
New insights into the genetic etiology of Alzheimer's disease and related dementias
Abstract Characterization of the genetic landscape of Alzheimer's disease (AD) and related
dementias (ADD) provides a unique opportunity for a better understanding of the associated …
dementias (ADD) provides a unique opportunity for a better understanding of the associated …
Genome-wide association analysis of plasma lipidome identifies 495 genetic associations
L Ottensmann, R Tabassum, SE Ruotsalainen… - Nature …, 2023 - nature.com
The human plasma lipidome captures risk for cardiometabolic diseases. To discover new
lipid-associated variants and understand the link between lipid species and cardiometabolic …
lipid-associated variants and understand the link between lipid species and cardiometabolic …
Graph pangenome captures missing heritability and empowers tomato breeding
Missing heritability in genome-wide association studies defines a major problem in genetic
analyses of complex biological traits,. The solution to this problem is to identify all causal …
analyses of complex biological traits,. The solution to this problem is to identify all causal …
Stroke genetics informs drug discovery and risk prediction across ancestries
Previous genome-wide association studies (GWASs) of stroke—the second leading cause of
death worldwide—were conducted predominantly in populations of European ancestry …
death worldwide—were conducted predominantly in populations of European ancestry …
webTWAS: a resource for disease candidate susceptibility genes identified by transcriptome-wide association study
The development of transcriptome-wide association studies (TWAS) has enabled
researchers to better identify and interpret causal genes in many diseases. However, there …
researchers to better identify and interpret causal genes in many diseases. However, there …
Global Biobank Meta-analysis Initiative: Powering genetic discovery across human disease
Biobanks facilitate genome-wide association studies (GWASs), which have mapped
genomic loci across a range of human diseases and traits. However, most biobanks are …
genomic loci across a range of human diseases and traits. However, most biobanks are …
Genome-wide association study of more than 40,000 bipolar disorder cases provides new insights into the underlying biology
Bipolar disorder is a heritable mental illness with complex etiology. We performed a genome-
wide association study of 41,917 bipolar disorder cases and 371,549 controls of European …
wide association study of 41,917 bipolar disorder cases and 371,549 controls of European …
Genetic control of RNA splicing and its distinct role in complex trait variation
Most genetic variants identified from genome-wide association studies (GWAS) in humans
are noncoding, indicating their role in gene regulation. Previous studies have shown …
are noncoding, indicating their role in gene regulation. Previous studies have shown …