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Russian mutational spectrum differs from that of their Western counterparts

2000· article· en· W1979113741 on OpenAlexaff
John Curry, Magomed Khaidakov, Barry W. Glickman

Bibliographic record

VenueHuman Mutation · 2000
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicBiochemical and Molecular Research
Canadian institutionsUniversity of Victoria
Fundersnot available
KeywordsBiologyMutantGeneticsExact testCytosineGuanineDemographyDNAInternal medicineGeneNucleotide

Abstract

fetched live from OpenAlex

It has been previously noted that the hypoxanthine-guanine phosphoribosyltransferase (HPRT) mutant frequency of Russian subjects is significantly higher than age-matched Western counterparts. To further explore this difference, approximately 100 mutants collected from Russian twins reported in a previous study have been sequenced and compared to an aged-matched Western mutant dataset. The mutational spectrum of the Russian subjects was significantly different (Adams and Skopek Monte Carlo test, P = 0. 004). Curiously, this younger Russian spectrum resembles that recovered from older individuals in the West. Specifically, A:T-->C:G transversions are significantly over-represented (Fisher's Exact test, P = 0.003) in the twin spectrum as compared to the young (age </= 35) Western spectrum. Even more noteworthy is the observation that 42% (23/55) of the base substitutions, almost double the expected value, have not been previously reported. These observations lead to the conclusion that this group of young Russian subjects has a mutational pattern which is distinct from the pattern of mutation observed in Western counterparts. The origin of this difference, whether related to genotoxic challenge, repair, or avoidance, cannot be distinguished, but diet and other lifestyle factors clearly may be responsible.

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: Bench or experimental · Consensus signal: Bench or experimental
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.103
Threshold uncertainty score0.527

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 studies0.0000.000
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 head0.016
GPT teacher head0.271
Teacher spread0.255 · 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 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

Citations3
Published2000
Admission routes1
Has abstractyes

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