Status and prospects of genome‐wide association studies in plants
Genome‐wide association studies (GWAS) have developed into a powerful and ubiquitous
tool for the investigation of complex traits. In large part, this was fueled by advances in …
tool for the investigation of complex traits. In large part, this was fueled by advances in …
A global overview of pleiotropy and genetic architecture in complex traits
K Watanabe, S Stringer, O Frei, M Umićević Mirkov… - Nature …, 2019 - nature.com
After a decade of genome-wide association studies (GWASs), fundamental questions in
human genetics, such as the extent of pleiotropy across the genome and variation in genetic …
human genetics, such as the extent of pleiotropy across the genome and variation in genetic …
Accurate proteome-wide missense variant effect prediction with AlphaMissense
The vast majority of missense variants observed in the human genome are of unknown
clinical significance. We present AlphaMissense, an adaptation of AlphaFold fine-tuned on …
clinical significance. We present AlphaMissense, an adaptation of AlphaFold fine-tuned on …
Rare coding variants in ten genes confer substantial risk for schizophrenia
Rare coding variation has historically provided the most direct connections between gene
function and disease pathogenesis. By meta-analysing the whole exomes of 24,248 …
function and disease pathogenesis. By meta-analysing the whole exomes of 24,248 …
Polygenic architecture of rare coding variation across 394,783 exomes
Both common and rare genetic variants influence complex traits and common diseases.
Genome-wide association studies have identified thousands of common-variant …
Genome-wide association studies have identified thousands of common-variant …
[HTML][HTML] Exome sequencing identifies breast cancer susceptibility genes and defines the contribution of coding variants to breast cancer risk
N Wilcox, M Dumont, A González-Neira, S Carvalho… - Nature …, 2023 - nature.com
Linkage and candidate gene studies have identified several breast cancer susceptibility
genes, but the overall contribution of coding variation to breast cancer is unclear. To …
genes, but the overall contribution of coding variation to breast cancer is unclear. To …
Dynamic incorporation of multiple in silico functional annotations empowers rare variant association analysis of large whole-genome sequencing studies at scale
Large-scale whole-genome sequencing studies have enabled the analysis of rare variants
(RVs) associated with complex phenotypes. Commonly used RV association tests have …
(RVs) associated with complex phenotypes. Commonly used RV association tests have …
Genetics of coronary artery disease: discovery, biology and clinical translation
AV Khera, S Kathiresan - Nature Reviews Genetics, 2017 - nature.com
Coronary artery disease is the leading global cause of mortality. Long recognized to be
heritable, recent advances have started to unravel the genetic architecture of the disease …
heritable, recent advances have started to unravel the genetic architecture of the disease …
Cauchy combination test: a powerful test with analytic p-value calculation under arbitrary dependency structures
Y Liu, J Xie - Journal of the American Statistical Association, 2020 - Taylor & Francis
Combining individual p-values to aggregate multiple small effects has a long-standing
interest in statistics, dating back to the classic Fisher's combination test. In modern large …
interest in statistics, dating back to the classic Fisher's combination test. In modern large …
The genetic basis of major depression
Major depressive disorder (MDD) is a common, debilitating, phenotypically heterogeneous
disorder with heritability ranges from 30% to 50%. Compared to other psychiatric disorders …
disorder with heritability ranges from 30% to 50%. Compared to other psychiatric disorders …