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Record W7001745285

Layered founders : a novel approach to investigate the ancestral transmission of complex traits

2004· other· en· W7001745285 on OpenAlexaboutno aff

Bibliographic record

VenuePolyPublie (École Polytechnique de Montréal) · 2004
Typeother
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenetics, Bioinformatics, and Biomedical Research
Canadian institutionsnot available
Fundersnot available
KeywordsNucleofectionGestational periodTSG101Circumstantial evidenceHyporeflexiaTubulopathy
DOInot available

Abstract

fetched live from OpenAlex

ABSTRACT: A novel approach based on graph theory is presented to reason about the genetic contribution of ancestors at different genealogical distances from today's individuals (different definitions of layers and distances are propos ed and discussed). It allows the maximum likelihood classification of specific founders who predominantly contribute to one class of individuals and the analysis of separability of specific founders with respect to two classes of individuals that have been selected based on LOD (logarithm of odds) score determined by a total genome scan and on ScaI marker genotype of a candidate gene of hypertension, ANP. Several experiments have been performed on a genealogy comprising more than 40,000 people and spanning 17 generations from the Saguenay-Lac-Saint-Jean population. We have computed: the founders obtained by using different definitions of layers and distances, the contribution of specific and unique founders, and the separability of specific founders. The results indicate that most defini tions of layers of founders show a similar trend over layers for size and content, that specific and unique genetic contributions are very high for recent generations and, as expected, decrease for older generations, and, also, that separability is higher for recent generations than for older ones. The presented approach allows a much finer grain analysis of genetic contribution of founders than previously-reported approaches.

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)0.001
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: Simulation or modeling · Consensus signal: none
GenreCandidate signal: Methods · Consensus signal: Methods
Teacher disagreement score0.004
Threshold uncertainty score0.007

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0010.003
Meta-epidemiology (narrow)0.0010.000
Meta-epidemiology (broad)0.0010.001
Bibliometrics0.0040.002
Science and technology studies0.0010.001
Scholarly communication0.0010.001
Open science0.0010.001
Research integrity0.0010.001
Insufficient payload (model declined to judge)0.0020.000

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 head0.031
GPT teacher head0.267
Teacher spread0.236 · 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 designSimulation or modeling
Domainnot available
GenreMethods

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

Citations0
Published2004
Admission routes1
Has abstractyes

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