ArticleInvestigative genetics2013
Inference of human continental origin and admixture proportions using a highly discriminative ancestry informative 41-SNP panel.
Article in Investigative genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 43 papers, 2 of them syntheses that pooled it.
What it found
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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
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Who cites it
43 citing papers in PubMed, 2 syntheses or guidelines pooled it, 120 citations in OpenAlex.
- International meta-analysis of PTSD genome-wide association studies identifies sex- and ancestry-specific genetic risk loci.Nature communications · 2019Pooled it
- The catecholamine biosynthetic enzyme dopamine β-hydroxylase (DBH): first genome-wide search positions trait-determining variants acting additively in the proximal promoter.Human molecular genetics · 2014Pooled it
- Natural anti-NMDAR1 autoantibodies are associated with lower risk for depression and PTSD symptoms after traumatic brain injury.Molecular psychiatry · 2026Article
- Effect of Traumatic Brain Injury on Sensorimotor Gating.Biological psychiatry. Cognitive neuroscience and neuroimaging · 2026Article
- Forensic skeletal and molecular anthropology face to face: Combining expertise for identification of human remains.Annals of the New York Academy of Sciences · 2025Review
- Optimization of computational ancestry inference for use in cancer cell lines.Biology methods & protocols · 2025Article
- Single-nucleus chromatin accessibility and transcriptomic map of breast tissues of women of diverse genetic ancestry.Nature medicine · 2024Article
- Spatial N-glycomics of the normal breast microenvironment reveals fucosylated and high-mannose N-glycan signatures related to BI-RADS density and ancestry.Glycobiology · 2024Article
- Global and Local Ancestry and its Importance: A Review.Current genomics · 2024Review
- Forensic biogeographical ancestry inference: recent insights and current trends.Genes & genomics · 2023Review
- Stromal heterogeneity may explain increased incidence of metaplastic breast cancer in women of African descent.Nature communications · 2023Article
- Prospective longitudinal assessment of sensorimotor gating as a risk/resiliency factor for posttraumatic stress disorder.Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology · 2022Article
- Association of Genetic Ancestry With Terminal Duct Lobular Unit Involution Among Healthy Women.Journal of the National Cancer Institute · 2022Article
- Article
- Development of a small panel of SNPs to infer ancestry in Chileans that distinguishes Aymara and Mapuche components.Biological research · 2020Article
- Genetic Ancestry-dependent Differences in Breast Cancer-induced Field Defects in the Tumor-adjacent Normal Breast.Clinical cancer research : an official journal of the American Association for Cancer Research · 2019Article
- Chronotype and cellular circadian rhythms predict the clinical response to lithium maintenance treatment in patients with bipolar disorder.Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology · 2019Article
- Using Ancestry Informative Markers (AIMs) to Detect Fine Structures Within Gorilla Populations.Frontiers in genetics · 2019Article
- DNA recovery and analysis from skeletal material in modern forensic contexts.Forensic sciences research · 2019Review
- Human ancestry indentification under resource constraints -- what can one chromosome tell us about human biogeographical ancestry?BMC medical genomics · 2018Article
Corrections and comments
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Authors and funding
7 authors at 4 institutions in 2 countries.
Funding
Abstract
backgroundAccurate determination of genetic ancestry is of high interest for many areas such as biomedical research, personal genomics and forensics. It remains an important topic in genetic association studies, as it has been shown that population stratification, if not appropriately considered, can lead to false-positive and -negative results. While large association studies typically extract ancestry information from available genome-wide SNP genotypes, many important clinical data sets on rare phenotypes and historical collections assembled before the GWAS area are in need of a feasible method (i.e., ease of genotyping, small number of markers) to infer the geographic origin and potential admixture of the study subjects. Here we report on the development, application and limitations of a small, multiplexable ancestry informative marker (AIM) panel of SNPs (or AISNP) developed specifically for this purpose.
resultsBased on worldwide populations from the HGDP, a 41-AIM AISNP panel for multiplex application with the ABI SNPlex and a subset with 31 AIMs for the Sequenome iPLEX system were selected and found to be highly informative for inferring ancestry among the seven continental regions Africa, the Middle East, Europe, Central/South Asia, East Asia, the Americas and Oceania. The panel was found to be least informative for Eurasian populations, and additional AIMs for a higher resolution are suggested. A large reference set including over 4,000 subjects collected from 120 global populations was assembled to facilitate accurate ancestry determination. We show practical applications of this AIM panel, discuss its limitations for admixed individuals and suggest ways to incorporate ancestry information into genetic association studies.
conclusionWe demonstrated the utility of a small AISNP panel specifically developed to discern global ancestry. We believe that it will find wide application because of its feasibility and potential for a wide range of applications.
Identifiers
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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.