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Record W4384655665 · doi:10.5281/zenodo.8162181

GENOME-WIDE ASSOCIATION STUDIES (GWAS) HAVE REVOLUTIONIZED OUR VIEW OF HUMAN HEALTH AND DISEASE GENETICS AND OFFERED NOVEL GENE THERAPY TARGETS

2023· article· en· W4384655665 on OpenAlexaboutno aff
Moataz Dowaidar

Bibliographic record

VenueZenodo (CERN European Organization for Nuclear Research) · 2023
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicNutrition, Genetics, and Disease
Canadian institutionsnot available
Fundersnot available
KeywordsGenome-wide association studyDiseaseBiologyGenetic associationGeneticsComputational biologyHuman genomeGenomeGenetic enhancementGeneMedicineSingle-nucleotide polymorphismGenotypePathology

Abstract

fetched live from OpenAlex

Knowing how genetic, behavioural, and sociocultural factors influence each person's risk for C. It is imperative that a larger, more diverse set of genetic studies be done in order to be able to close the analysis of CMD distance In terms of disease prevention, there is a lot of interest in CMD genomic research. This potential can only be achieved if Ancestry DNA-style data like PRS is successfully gathered from the population. Inadequate participation is a big issue in current CMD genetic research. Differential minorities in the United States and Canada have set forth some important steps to improve their access to genetic research. To make sure that this will not happen again, these activities include discovering the issues and using communitybased participatory interventions and benefits-sharing mechanisms. People underrepresented in the world of genetics will require more services to support them. CMD and other genomics markers have been successfully identified and created novel avenues for human and population health change. In addition, it has complicated matters with regard to how this data would affect the broader healthcare system. What are the main questions: disproportionate difficulty in the CMD genotype-phenotype database; confounded research on disease heritability; ethnicity may not be well described, making estimating disease heritability difficultDespite these roadblocks, genome-informed inclusive data will bear unprecedented promise for bringing down CMD and improving wellbeing. A large-scale data unification has already occurred, as mentioned in this blog post to CMD Data sharing, however, is a project that must be done on a small scale in order to gain initial traction. This is also applicable to GWAS research on self-identified ethnicity. Although race and ethnicity are socially and culturally constructed, the use of self-identifying categories in genetic studies still endures.

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)0.016
metaresearch head score (Gemma)0.030
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: none
GenreCandidate signal: Review · Consensus signal: none
Teacher disagreement score0.021
Threshold uncertainty score0.087

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0160.030
Meta-epidemiology (narrow)0.0010.001
Meta-epidemiology (broad)0.0020.002
Bibliometrics0.0050.005
Science and technology studies0.0020.005
Scholarly communication0.0050.005
Open science0.0020.004
Research integrity0.0040.007
Insufficient payload (model declined to judge)0.0210.004

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 head0.052
GPT teacher head0.299
Teacher spread0.247 · 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 designObservational
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

Citations0
Published2023
Admission routes1
Has abstractyes

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