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Record W3006299723 · doi:10.1002/ajpa.24024

Historical human remains identification through maternal and paternal genetic signatures in a founder population with extensive genealogical record

2020· article· en· W3006299723 on OpenAlexafffundabout
Tommy Harding, Emmanuel Milot, Claudia Moreau, Jean‐François Lefebvre, Jean‐Sébastien Bournival, Hélène Vézina, Catherine Laprise, Carles Lalueza‐Fox, Roger Anglada, Brad Loewen, Ferrán Casals, Isabelle Ribot, Damian Labuda

Bibliographic record

VenueAmerican Journal of Physical Anthropology · 2020
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicForensic and Genetic Research
Canadian institutionsUniversité de MontréalUniversité du Québec à ChicoutimiUniversité du Québec à Trois-RivièresCentre Hospitalier Universitaire Sainte-Justine
FundersEuropean Regional Development FundFonds de Recherche du Québec - SantéNatural Sciences and Engineering Research Council of CanadaFonds de Recherche du Québec-Société et Culture
KeywordsHaplotypeGenealogyAncient DNAFounder effectOsteologyGenetic genealogyPopulationGenotypingY chromosomeEvolutionary biologyHistorical recordMitochondrial DNABiologyIdentification (biology)Lineage (genetic)GeographyGeneticsDemographyHistoryArchaeologyGenotypeSociologyGene

Abstract

fetched live from OpenAlex

OBJECTIVES: We describe a method to identify human remains excavated from unmarked graves in historical Québec cemeteries by combining parental-lineage genetic markers with the whole-population genealogy of Québec contained in the BALSAC database. MATERIALS AND METHODS: The remains of six men were exhumed from four historical cemeteries in the province of Québec, Canada. DNA was extracted from the remains and genotyped to reveal their mitochondrial and Y-chromosome haplotypes, which were compared to a collection of haplotypes of genealogically-anchored modern volunteers. Maternal and paternal genealogies were searched in the BALSAC genealogical record for parental couples matching the mitochondrial and the Y-chromosome haplotypic signatures, to identify candidate sons from whom the remains could have originated. RESULTS: Analysis of the matching genealogies identified the parents of one man inhumed in the cemetery of the investigated parish during its operating time. The candidate individual died in 1833 at the age of 58, a plausible age at death in light of osteological analysis of the remains. DISCUSSION: This study demonstrates the promising potential of coupling genetic information from living individuals to genealogical data in BALSAC to identify historical human remains. If genetic coverage is increased, the genealogical information in BALSAC could enable the identification of 87% of the men (n = 178,435) married in Québec before 1850, with high discriminatory power in most cases since >75% of the parental couples have unique biparental signatures in most regions. Genotyping and identifying Québec's historical human remains are a key to reconstructing the genomes of the founders of Québec and reinhuming archeological remains with a marked grave.

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 distilled prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.

metaresearch head score (Codex)0.000
metaresearch head score (Gemma)0.000
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: none
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.620
Threshold uncertainty score0.430

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0000.000
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0000.000
Science and technology studies0.0000.001
Scholarly communication0.0000.000
Open science0.0000.000
Research integrity0.0000.000
Insufficient payload (model declined to judge)0.0000.000

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 head0.017
GPT teacher head0.308
Teacher spread0.291 · 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 teacher head, not a consensus.

The models applied no category: nothing in the taxonomy fit this work.
Study designObservational
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

Citations9
Published2020
Admission routes3
Has abstractyes

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