Evidence map›Paper›PMID 22272242›Full record

ArticlePloS one2012

Straightforward inference of ancestry and admixture proportions through ancestry-informative insertion deletion multiplexing.

Rui Pereira, Christopher Phillips, Nádia Pinto, Carla Santos, Sidney Emanuel Batista dos Santos, António Amorim, Ángel Carracedo, Leonor Gusmão

Open access · goldAbstract read
In one paragraph

Article in PloS one, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 90 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
90citing papers in PubMed, 2 pooled it
11.8field-weighted citation impact, top 1% of its field
1 · What the graph read from 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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

90 citing papers in PubMed, 2 syntheses or guidelines pooled it, 259 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Trial
  4. Article
  5. Population Admixture andJournal of cardiovascular development and disease · 2026
    Article
  6. Spectrum and Clinical Interpretation ofInternational journal of molecular sciences · 2025
    Article
  7. Article
  8. Article
  9. Article
  10. Article
  11. Article
  12. Article
  13. Article
  14. Population-Specific Distribution ofTherapeutics and clinical risk management · 2023
    Article
  15. Ancestry and self-reported race in Brazilian breast cancer women.Revista da Associacao Medica Brasileira (1992) · 2023
    Observational
  16. Article
  17. Human N-acetyltransferase 2 (Frontiers in pharmacology · 2023
    Article
  18. Article
  19. Article
  20. Article

30 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

8 authors at 3 institutions in 3 countries.

Rui PereiraIPATIMUP-Institute of Molecular Pathology and Immunology of the University of Porto, Porto, Portugal.
Christopher Phillips
Nádia Pinto
Carla Santos
Sidney Emanuel Batista dos Santos
António Amorim
Ángel Carracedo
Leonor Gusmão
Universidade do Porto · PTUniversidade de Santiago de Compostela · ESUniversidade Federal do Pará · BR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Ancestry-informative markers (AIMs) show high allele frequency divergence between different ancestral or geographically distant populations. These genetic markers are especially useful in inferring the likely ancestral origin of an individual or estimating the apportionment of ancestry components in admixed individuals or populations. The study of AIMs is of great interest in clinical genetics research, particularly to detect and correct for population substructure effects in case-control association studies, but also in population and forensic genetics studies. This work presents a set of 46 ancestry-informative insertion deletion polymorphisms selected to efficiently measure population admixture proportions of four different origins (African, European, East Asian and Native American). All markers are analyzed in short fragments (under 230 basepairs) through a single PCR followed by capillary electrophoresis (CE) allowing a very simple one tube PCR-to-CE approach. HGDP-CEPH diversity panel samples from the four groups, together with Oceanians, were genotyped to evaluate the efficiency of the assay in clustering populations from different continental origins and to establish reference databases. In addition, other populations from diverse geographic origins were tested using the HGDP-CEPH samples as reference data. The results revealed that the AIM-INDEL set developed is highly efficient at inferring the ancestry of individuals and provides good estimates of ancestry proportions at the population level. In conclusion, we have optimized the multiplexed genotyping of 46 AIM-INDELs in a simple and informative assay, enabling a more straightforward alternative to the commonly available AIM-SNP typing methods dependent on complex, multi-step protocols or implementation of large-scale genotyping technologies.

Indexed as

Asian PeopleBlack PeopleDNAElectrophoresis, CapillaryGene FrequencyGenetics, PopulationGenetic VariationGenotypeGenotyping TechniquesHumansINDEL MutationIndians, North AmericanPolymerase Chain ReactionPolymorphism, Single NucleotideWhite PeopleDNA

Identifiers

PMID22272242
PMCPMC3260179
OpenAlexW2066270788

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

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.