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Molecular Genetics of Polygenic Hypertension

2008· other· en· W4249779511 on OpenAlexafffund
Alan Y. Deng

Bibliographic record

VenueEncyclopedia of Life Sciences · 2008
Typeother
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenetic Associations and Epidemiology
Canadian institutionsUniversité de Montréal
FundersCanadian Institutes of Health ResearchWellcome Trust
KeywordsQuantitative trait locusEpistasisGenetic architectureBiologyGeneticsCandidate geneMultiplexPopulationFamily-based QTL mappingGenomeGenome-wide association studyGenetic linkageTraitGenetic associationMendelian inheritanceGeneComputational biologyGene mappingSingle-nucleotide polymorphismGenotypeMedicineComputer science

Abstract

fetched live from OpenAlex

Abstract Contrasting to rare monogenic forms of hypertension, essential hypertension is the most clinically diagnosed ailment leading to high morbidity and mortality; however, its underlying mechanisms continue to be undeciphered. To assist this endeavor, investigations utilizing rodent models have revealed multiplex genetic architecture for quantitative trait loci (QTLs), for blood pressure (BP), elaborate QTL–QTL interactions and efficacious genome regulations of QTL functions. Although BP is a quantitatively measured trait manifesting in a continuous variation, each QTL governing it appears to behave as an independent and ‘monogenic’ Mendelian determinant. Some QTLs are functionally modularized by epistasis that implies a common pathway or cascade; whereas others belong to parallel epistatic modules. These insights suggest that similar genetic mechanisms probably shepherd the genetic architecture for essential hypertension. Translation of gene discovery to therapeutic targets and diagnostic tools will require a consolidation of functional validation of genes in animal models with association studies in targeted human populations. Key Concepts The quantitative governance of blood pressure variations is realized by several genes or quantitative trait loci (QTLs). Each QTL can operate autonomously and comports in a ‘monogenic’ pattern. Those QTLs that occur to mutually conceal their BP effects can be epistatically modularized, consequently, solving the conundrum of overabundant QTLs in the genome. Despite the puissance of QTLs, potent genome regulations can disallow QTLs to influence blood pressure (BP). In both human and animal association/linkage studies, population‐dependence and the influence of genome heterogeneity on exhibiting the amplitude of BP effect are frequently observed occurrences.

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)0.000
metaresearch head score (Gemma)0.000
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Not applicable · Consensus signal: none
GenreCandidate signal: Other · Consensus signal: none
Teacher disagreement score0.002
Threshold uncertainty score0.006

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0000.000
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0010.000
Science and technology studies0.0000.001
Scholarly communication0.0010.000
Open science0.0000.000
Research integrity0.0000.000
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 head0.016
GPT teacher head0.257
Teacher spread0.241 · 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 designNot applicable
Domainnot available
GenreOther

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".

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Citations0
Published2008
Admission routes2
Has abstractyes

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