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Record W4295095543 · doi:10.20517/jtgg.2021.61

The DNA damage response - from cell biology to human disease

2022· article· en· W4295095543 on OpenAlexaff
Fred C. Lam

Bibliographic record

VenueJournal of Translational Genetics and Genomics · 2022
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicDNA Repair Mechanisms
Canadian institutionsMcMaster UniversityHamilton General Hospital
Fundersnot available
KeywordsDNA damageDNA repairBiologyMitochondrial DNAGenome instabilityGeneticsDNACarcinogenesisDNA mismatch repairGenomeComputational biologyGene

Abstract

fetched live from OpenAlex

Maintenance of DNA integrity is crucial for faithful transmission of the genetic code from generation to generation. Our genetic code is constantly under attack from both endogenous and exogenous sources of DNA damage. To ensure genome stability, cells have developed elegant DNA damage repair mechanisms. Defects in DNA damage repair have been linked to several human diseases including promoting oncogenesis, heritable neurodegenerative and neuromuscular diseases caused by unstable DNA repeats, neuropathies and myopathies caused by mutations and rearrangements in mitochondrial DNA, neuropsychiatric disorders, and heritable premature aging syndromes. This review will discuss our current understanding of how these underlying errors in DNA repair contribute to the clinical outcomes of patients who present with these diseases.

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: Review · Consensus signal: Review
Teacher disagreement score0.003
Threshold uncertainty score0.010

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0000.000
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0010.000
Bibliometrics0.0010.001
Science and technology studies0.0000.002
Scholarly communication0.0030.002
Open science0.0010.001
Research integrity0.0010.003
Insufficient payload (model declined to judge)0.0030.002

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 head0.010
GPT teacher head0.246
Teacher spread0.237 · 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
GenreReview

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

Citations26
Published2022
Admission routes1
Has abstractyes

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