MétaCan
Menu
Back to cohort
Record W2022905671 · doi:10.1371/journal.pgen.1002554

Development of a Panel of Genome-Wide Ancestry Informative Markers to Study Admixture Throughout the Americas

2012· article· en· W2022905671 on OpenAlexafffund
Joshua Galanter, Juan Carlos Fernández-López, Christopher R. Gignoux, Jill S. Barnholtz‐Sloan, Ceres Fernández–Rozadilla, Marc Vía, Alfredo Hidalgo‐Miranda, Alejandra Contreras, Laura Uribe Figueroa, Paola Raska, Gerardo Jiménez‐Sánchez, Irma Silva Zolezzi, María Torres, Clara Ruiz Ponte, Yarimar Ruíz, Antonio Salas, Elizabeth A. Nguyen, Celeste Eng, Lisbeth Borjas, William Zabala, Guillermo Barreto, Fernando Rondón González, A. Ibarra, Patricia Taboada, Liliana Porras, Fabián Moreno, Abigail W. Bigham, Gerardo Gutiérrez‐Gutiérrez, Tom D. Brutsaert, Fabiola Lèon‐Velarde, Lorna G. Moore, Enrique Vargas, Miguel Cruz, Jorge Escobedo, José Rodríguez‐Santana, William Rodríguez-Cintrón, Rocío Chapela, Jean G. Ford, Carlos D. Bustamante, Daniela Seminara, Mark D. Shriver, Elad Ziv, Esteban G. Burchard, Robert W. Haile, Esteban J. Parra, Ángel Carracedo

Bibliographic record

VenuePLoS Genetics · 2012
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicForensic and Genetic Research
Canadian institutionsUniversity of Toronto
FundersNational Center for Research ResourcesNational Institute of Environmental Health SciencesNational Institute of General Medical SciencesNational Cancer InstituteNational Heart, Lung, and Blood InstituteConsejo Nacional de Ciencia y TecnologíaBanting and Best Diabetes Centre, University of TorontoUniversity of California, San FranciscoU.S. Public Health ServiceNational Institutes of HealthInstituto Nacional de Medicina GenómicaAmerican Asthma FoundationOntario Innovation TrustInstituto Mexicano del Seguro SocialCanadian Institutes of Health ResearchSandler Foundation
KeywordsBiologyAncestry-informative markerPopulation stratificationGenome-wide association studyLatin AmericansPopulationGenetic genealogy1000 Genomes ProjectLocus (genetics)Evolutionary biologyGenetic associationPopulation geneticsGeneticsGenotypeDemographyAllele frequencySingle-nucleotide polymorphismGene

Abstract

fetched live from OpenAlex

Most individuals throughout the Americas are admixed descendants of Native American, European, and African ancestors. Complex historical factors have resulted in varying proportions of ancestral contributions between individuals within and among ethnic groups. We developed a panel of 446 ancestry informative markers (AIMs) optimized to estimate ancestral proportions in individuals and populations throughout Latin America. We used genome-wide data from 953 individuals from diverse African, European, and Native American populations to select AIMs optimized for each of the three main continental populations that form the basis of modern Latin American populations. We selected markers on the basis of locus-specific branch length to be informative, well distributed throughout the genome, capable of being genotyped on widely available commercial platforms, and applicable throughout the Americas by minimizing within-continent heterogeneity. We then validated the panel in samples from four admixed populations by comparing ancestry estimates based on the AIMs panel to estimates based on genome-wide association study (GWAS) data. The panel provided balanced discriminatory power among the three ancestral populations and accurate estimates of individual ancestry proportions (R² > 0.9 for ancestral components with significant between-subject variance). Finally, we genotyped samples from 18 populations from Latin America using the AIMs panel and estimated variability in ancestry within and between these populations. This panel and its reference genotype information will be useful resources to explore population history of admixture in Latin America and to correct for the potential effects of population stratification in admixed samples in the region.

Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.

How this classification was reachedexpand

Full frame machine prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.

metaresearch head score (Codex)0.003
metaresearch head score (Gemma)0.003
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Bench or experimental · Consensus signal: none
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.005
Threshold uncertainty score0.015

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0030.003
Meta-epidemiology (narrow)0.0010.000
Meta-epidemiology (broad)0.0010.001
Bibliometrics0.0020.002
Science and technology studies0.0010.000
Scholarly communication0.0010.000
Open science0.0010.001
Research integrity0.0000.001
Insufficient payload (model declined to judge)0.0020.001

Machine scores (provisional)

The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.

Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.

Opus teacher head0.061
GPT teacher head0.339
Teacher spread0.277 · how far apart the two teachers sit on this one work
Validation statusscore_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from it

Classification

machine, unvalidated

Machine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.

The models applied no category: nothing in the taxonomy fit this work.
Study designBench or experimental
Domainnot available
GenreEmpirical

How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".

Quick stats

Citations302
Published2012
Admission routes2
Has abstractyes

Explore more

Same venuePLoS GeneticsSame topicForensic and Genetic ResearchFrench-language works237,207