ReviewHuman genetics2020
Is population structure in the genetic biobank era irrelevant, a challenge, or an opportunity?
Review in Human genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 56 papers, 2 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
56 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Alcohol consumption in relation to cardiovascular diseases and mortality: a systematic review of Mendelian randomization studies.European journal of epidemiology · 2022Pooled it
- Population genetic considerations for using biobanks as international resources in the pandemic era and beyond.BMC genomics · 2021Pooled it
- Evaluating confounding in rare variant genome wide association studies.Nature communications · 2026Article
- Joint modeling of whole-genome sequencing data for human height via approximate message passing.Cell genomics · 2026Article
- Review
- From pixels to breeding values: genetic analysis of detection and movement traits in laying hens using automated tracking data of ArUco-marked birds.Genetics, selection, evolution : GSE · 2026Article
- A spectral component approach leveraging identity-by-descent graphs to address recent population structure in genomic analysis.Genome research · 2026Article
- Genetic effects on migration behavior contribute to increasing spatial differentiation at trait-associated loci in Estonia.iScience · 2025Article
- Race, ethnicity and ancestry in global diabetes research: grappling with complexity to advance equity and scientific integrity - a narrative review and viewpoint.Diabetologia · 2025Review
- SPC: a SPectral Component approach leveraging Identity-by-Descent graphs to address recent population structure in genomic analysis.medRxiv : the preprint server for health sciences · 2025Article
- From individuals to ancestries: Towards attributing trait variation to haplotypes.PLoS genetics · 2025Article
- Polygenic Scores of Executive Function Provide Limited Support for Genetic Confounding With Socio-Economic Measures.Genes, brain, and behavior · 2025Article
- Article
- Sparse vertex discriminant analysis: Variable selection for biomedical classification applications.Computational statistics & data analysis · 2025Article
- A robust and powerful GWAS method for family trios supporting within-family Mendelian randomization analysis.Research square · 2025Article
- A Review of Mendelian Randomization: Assumptions, Methods, and Application to Obesity-Related Diseases.Journal of obesity & metabolic syndrome · 2025Review
- Lipid-lowering drugs and risk of rapid renal function decline: a mendelian randomization study.BMC medical genomics · 2024Article
- Polygenic Indices (a.k.a. Polygenic Scores) in Social Science: A Guide for Interpretation and Evaluation.Sociological methodology · 2024Article
- Genetic variation across and within individuals.Nature reviews. Genetics · 2024Review
- Genome-Wide Association Study of Rice Diversity Panel Reveals New QTLs for Tolerance to Water Deficit Under the Egyptian Conditions.Rice (New York, N.Y.) · 2024Article
Corrections and comments
- Erratum issued
Authors and funding
9 authors.
Funding
Abstract
Replicable genetic association signals have consistently been found through genome-wide association studies in recent years. The recent dramatic expansion of study sizes improves power of estimation of effect sizes, genomic prediction, causal inference, and polygenic selection, but it simultaneously increases susceptibility of these methods to bias due to subtle population structure. Standard methods using genetic principal components to correct for structure might not always be appropriate and we use a simulation study to illustrate when correction might be ineffective for avoiding biases. New methods such as trans-ethnic modeling and chromosome painting allow for a richer understanding of the relationship between traits and population structure. We illustrate the arguments using real examples (stroke and educational attainment) and provide a more nuanced understanding of population structure, which is set to be revisited as a critical aspect of future analyses in genetic epidemiology. We also make simple recommendations for how problems can be avoided in the future. Our results have particular importance for the implementation of GWAS meta-analysis, for prediction of traits, and for causal inference.
Indexed as
Identifiers
What Socratic holds
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 Socratic graph.