Research graph
References from Effect heterogeneity reveals complex pleiotropic effects of rare coding variants. Local targets link to admitted publications; unresolved targets remain external evidence.
A global overview of pleiotropy and genetic architecture in complex traits
10.1038/s41588-019-0481-0 · 2019 · External reference
Abundant pleiotropy in human complex diseases and traits
10.1016/j.ajhg.2011.10.004 · 2011 · External reference
Genome-Wide Assessment of Pleiotropy Across >1000 Traits from Global Biobanks
2025 · External reference
Pleiotropy in complex traits: challenges and strategies
10.1038/nrg3461 · 2013 · External reference
Mendelian randomization: genetic anchors for causal inference in epidemiological studies
10.1093/hmg/ddu328 · 2014 · External reference
Distinguishing genetic correlation from causation across 52 diseases and complex traits
10.1038/s41588-018-0255-0 · 2018 · External reference
Variants of the melanocyte–stimulating hormone receptor gene are associated with red hair and fair skin in humans
10.1038/ng1195-328 · 1995 · External reference
GUIDE deconstructs genetic architectures using association studies
2025 · External reference
A hierarchical clustering method for dimension reduction in joint analysis of multiple phenotypes
10.1002/gepi.22124 · 2018 · External reference
An atlas of genetic correlations across human diseases and traits
10.1038/ng.3406 · 2015 · External reference
Dissecting pleiotropy to gain mechanistic insights into human disease
10.1038/s41576-025-00908-0 · 2026 · External reference
Local Genetic Correlation Gives Insights into the Shared Genetic Architecture of Complex Traits
10.1016/j.ajhg.2017.09.022 · 2017 · External reference
Shared components of heritability across genetically correlated traits
10.1016/j.ajhg.2022.04.003 · 2022 · External reference
Rare-variant association testing for sequencing data with the sequence kernel association test
10.1016/j.ajhg.2011.05.029 · 2011 · External reference
Incomplete Penetrance and Variable Expressivity: From Clinical Studies to Population Cohorts
10.3389/fgene.2022.920390 · 2022 · External reference
SCN2A-Related Epilepsy: The Phenotypic Spectrum, Treatment and Prognosis
10.3389/fnmol.2022.809951 · 2022 · External reference
The genotype-phenotype correlations of the CACNA1A-related neurodevelopmental disorders: a small case series and literature reviews
10.3389/fnmol.2023.1222321 · 2023 · External reference
Rare coding variants in ten genes confer substantial risk for schizophrenia
10.1038/s41586-022-04556-w · 2022 · External reference
Widespread Allelic Heterogeneity in Complex Traits
10.1016/j.ajhg.2017.04.005 · 2017 · External reference
An allelic-series rare-variant association test for candidate-gene discovery
10.1016/j.ajhg.2023.07.001 · 2023 · External reference
Deep mutational scanning: a new style of protein science
10.1038/nmeth.3027 · 2014 · External reference
Scalable Functional Assays for the Interpretation of Human Genetic Variation
10.1146/annurev-genet-072920-032107 · 2022 · External reference
Updated benchmarking of variant effect predictors using deep mutational scanning
10.15252/msb.202211474 · 2023 · External reference
Systematic common and rare variant association testing in 392,030 whole genomes in All of Us
2026 · External reference
The Biobank Rare Variant consortium powers the discovery of rare genetic associations through global collaboration
2026 · External reference
Global Biobank Meta-analysis Initiative: Powering genetic discovery across human disease
2022 · External reference
The UK Biobank resource with deep phenotyping and genomic data
10.1038/s41586-018-0579-z · 2018 · External reference
Systematic comparison of phenome-wide association study of electronic medical record data and genome-wide association study data
10.1038/nbt.2749 · 2013 · External reference
Phenome-Wide Association Studies
10.1001/jama.2021.20356 · 2022 · External reference
Genetics of 35 blood and urine biomarkers in the UK Biobank
10.1038/s41588-020-00757-z · 2021 · External reference
Exome Genotyping Identifies Pleiotropic Variants Associated with Red Blood Cell Traits
10.1016/j.ajhg.2016.05.007 · 2016 · External reference
Autism spectrum disorder and attention deficit hyperactivity disorder have a similar burden of rare protein-truncating variants
10.1038/s41593-019-0527-8 · 2019 · External reference
Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes
10.1038/s41593-024-01747-8 · 2024 · External reference
Systematic single-variant and gene-based association testing of thousands of phenotypes in 394,841 UK Biobank exomes
2022 · External reference
Exome sequencing and analysis of 454,787 UK Biobank participants
10.1038/s41586-021-04103-z · 2021 · External reference
Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies
10.1038/s41588-018-0184-y · 2018 · External reference
Scalable generalized linear mixed model for region-based association tests in large biobanks and cohorts
10.1038/s41588-020-0621-6 · 2020 · External reference
Optimal Unified Approach for Rare-Variant Association Testing with Application to Small-Sample Case-Control Whole-Exome Sequencing Studies
10.1016/j.ajhg.2012.06.007 · 2012 · External reference
Pathogenic missense protein variants affect different functional pathways and proteomic features than healthy population variants
10.1371/journal.pbio.3001207 · 2021 · External reference
Rare Protein-Truncating Variants in APOB, Lower Low-Density Lipoprotein Cholesterol, and Protection Against Coronary Heart Disease
10.1161/circgen.118.002376 · 2019 · External reference
TET2 mutation as prototypic clonal hematopoiesis lesion
10.1053/j.seminhematol.2024.01.013 · 2024 · External reference
Use of Albumin-Adjusted Calcium Measurements in Clinical Practice
10.1001/jamanetworkopen.2024.55251 · 2025 · External reference
Effect of albumin and free calcium concentrations on calcium binding in vitro
10.1136/jcp.34.12.1361 · 1981 · External reference
The landscape of regional missense mutational intolerance quantified from 125,748 exomes
2024 · External reference
Pleiotropy: what do you mean? Reply to Zhang and Wagner
10.1016/j.tig.2013.05.003 · 2013 · External reference
Genetic pleiotropy in complex traits and diseases: implications for genomic medicine
10.1186/s13073-016-0332-x · 2016 · External reference
PolarMorphism enables discovery of shared genetic variants across multiple traits from GWAS summary statistics
10.1093/bioinformatics/btac228 · 2022 · External reference
Specificity, length and luck drive gene rankings in association studies
10.1038/s41586-025-09703-7 · 2026 · External reference
Transcript expression-aware annotation improves rare variant interpretation
10.1038/s41586-020-2329-2 · 2020 · External reference
Residual allelic activity likely underlies the low rates of disease expression for predicted loss-of-function variants in population-scale biobanks
10.1016/j.ajhg.2025.11.002 · 2025 · External reference
Polygenic architecture of rare coding variation across 394,783 exomes
10.1038/s41586-022-05684-z · 2023 · External reference
Whole-genome sequencing analysis identifies rare, large-effect noncoding variants and regulatory regions associated with circulating protein levels
10.1038/s41588-025-02095-4 · 2025 · External reference
Accurate proteome-wide missense variant effect prediction with AlphaMissense
10.1126/science.adg7492 · 2023 · External reference
Phenotypic heterogeneity in human genetic diseases: ultrasensitivity-mediated threshold effects as a unifying molecular mechanism
10.1186/s12929-023-00959-7 · 2023 · External reference
