ArticleGenome research2005
Calibrating a coalescent simulation of human genome sequence variation.
Article in Genome research, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 398 papers, 7 of them syntheses that pooled it.
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Who cites it
398 citing papers in PubMed, 7 syntheses or guidelines pooled it.
- Powerful, scalable and resource-efficient meta-analysis of rare variant associations in large whole genome sequencing studies.Nature genetics · 2023Pooled it
- Kernel-based gene-environment interaction tests for rare variants with multiple quantitative phenotypes.PloS one · 2022Pooled it
- Variance-component-based meta-analysis of gene-environment interactions for rare variants.G3 (Bethesda, Md.) · 2021Pooled it
- Improved score statistics for meta-analysis in single-variant and gene-level association studies.Genetic epidemiology · 2018Pooled it
- Meta-analysis of quantitative pleiotropic traits for next-generation sequencing with multivariate functional linear models.European journal of human genetics : EJHG · 2017Pooled it
- Meta-analysis of Complex Diseases at Gene Level with Generalized Functional Linear Models.Genetics · 2016Pooled it
- Meta-analysis for Discovering Rare-Variant Associations: Statistical Methods and Software Programs.American journal of human genetics · 2015Pooled it
- Genomic evidence for shared common ancestry of East African hunting-gathering populations and insights into local adaptation.Proceedings of the National Academy of Sciences of the United States of America · 2019Trial
- Robust Inference With Ghostknockoffs in Genome-Wide Association Studies With Sample Relatedness.Genetic epidemiology · 2026Article
- Integrating network annotation from multiple correlated traits to improve polygenic risk scores based on GWAS summary statistics.Research square · 2026Article
- cellSTAAR: incorporating single-cell-sequencing-based functional data to boost power in rare variant association testing of noncoding regions.Nature methods · 2026Article
- Joint Effects of Balancing Selection and Population Bottlenecks on the Evolution of a Regulatory Region of Human Antiviral APOBEC3.Genome biology and evolution · 2025Article
- A statistical framework for multi-trait rare variant analysis in large-scale whole-genome sequencing studies.Nature computational science · 2025Article
- Ecological Trait Differences Are Associated with Gene Expression in the Primary Visual Cortex of Primates.Genes · 2025Article
- Ensemble methods for testing a global null.Journal of the Royal Statistical Society. Series B, Statistical methodology · 2024Article
- Gene-based association tests in family samples using GWAS summary statistics.Genetic epidemiology · 2024Article
- RETROSPECTIVE VARYING COEFFICIENT ASSOCIATION ANALYSIS OF LONGITUDINAL BINARY TRAITS: APPLICATION TO THE IDENTIFICATION OF GENETIC LOCI ASSOCIATED WITH HYPERTENSION.The annals of applied statistics · 2024Article
- Improving polygenic risk prediction in admixed populations by explicitly modeling ancestral-differential effects via GAUDI.Nature communications · 2024Article
- Astrocytes Drive Divergent Metabolic Gene Expression in Humans and Chimpanzees.Genome biology and evolution · 2024Article
- Article
338 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
6 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Population genetic models play an important role in human genetic research, connecting empirical observations about sequence variation with hypotheses about underlying historical and biological causes. More specifically, models are used to compare empirical measures of sequence variation, linkage disequilibrium (LD), and selection to expectations under a "null" distribution. In the absence of detailed information about human demographic history, and about variation in mutation and recombination rates, simulations have of necessity used arbitrary models, usually simple ones. With the advent of large empirical data sets, it is now possible to calibrate population genetic models with genome-wide data, permitting for the first time the generation of data that are consistent with empirical data across a wide range of characteristics. We present here the first such calibrated model and show that, while still arbitrary, it successfully generates simulated data (for three populations) that closely resemble empirical data in allele frequency, linkage disequilibrium, and population differentiation. No assertion is made about the accuracy of the proposed historical and recombination model, but its ability to generate realistic data meets a long-standing need among geneticists. We anticipate that this model, for which software is publicly available, and others like it will have numerous applications in empirical studies of human genetics.
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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.