ArticleBioinformatics (Oxford, England)2020
Phenotype-specific differences in polygenicity and effect size distribution across functional annotation categories revealed by AI-MiXeR.
Article in Bioinformatics (Oxford, England), 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
What it found
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Who cites it
11 citing papers in PubMed, 11 citations in OpenAlex.
- Structural variants contribute substantially to complex trait heritability.Research square · 2026Article
- Unravelling the genetic architecture of cerebral small vessel disease in the context of stroke.Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism · 2026Review
- Beyond Exons: Linking Noncoding Heritability and Polygenicity across Complex Human Traits and Disorders.bioRxiv : the preprint server for biology · 2026Article
- Unraveling the Shared Genetic Architecture and Polygenic Overlap Between Loneliness, Major Depressive Disorder, and Sleep-Related Traits.Biomedicines · 2025Article
- Distinct patterns of genetic overlap among multimorbidities revealed with trivariate MiXeR.Genome medicine · 2025Article
- Finemap-MiXeR: A variational Bayesian approach for genetic finemapping.PLoS genetics · 2024Article
- Improved functional mapping of complex trait heritability with GSA-MiXeR implicates biologically specific gene sets.Nature genetics · 2024Article
- Dissecting the genetic overlap between three complex phenotypes with trivariate MiXeR.medRxiv : the preprint server for health sciences · 2024Article
- Shared genetic loci between Alzheimer's disease and multiple sclerosis: Crossroads between neurodegeneration and immune system.Neurobiology of disease · 2023Article
- Evaluating brain structure traits as endophenotypes using polygenicity and discoverability.Human brain mapping · 2022Article
- The genetic architecture of human complex phenotypes is modulated by linkage disequilibrium and heterozygosity.Genetics · 2021Article
Corrections and comments
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Authors and funding
12 authors at 2 institutions in 2 countries.
Funding
Abstract
motivationDetermining the relative contributions of functional genetic categories is fundamental to understanding the genetic etiology of complex human traits and diseases. Here, we present Annotation Informed-MiXeR, a likelihood-based method for estimating the number of variants influencing a phenotype and their effect sizes across different functional annotation categories of the genome using summary statistics from genome-wide association studies.
resultsExtensive simulations demonstrate that the model is valid for a broad range of genetic architectures. The model suggests that complex human phenotypes substantially differ in the number of causal variants, their localization in the genome and their effect sizes. Specifically, the exons of protein-coding genes harbor more than 90% of variants influencing type 2 diabetes and inflammatory bowel disease, making them good candidates for whole-exome studies. In contrast, <10% of the causal variants for schizophrenia, bipolar disorder and attention-deficit/hyperactivity disorder are located in protein-coding exons, indicating a more substantial role of regulatory mechanisms in the pathogenesis of these disorders. AVAILABILITY AND IMPLEMENTATION: The software is available at: https://github.com/precimed/mixer. SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.