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Record W4408290868 · doi:10.1016/j.ajhg.2025.02.008

The expanding global genomics landscape: Converging priorities from national genomics programs

2025· review· en· W4408290868 on OpenAlexaff
Caitlin Howley, Matilda Haas, Wadha A. Al Muftah, Robert B. Annan, Eric D. Green, Bettina Lundgren, Richard H. Scott, Zornitza Stark, Patrick Tan, Kathryn N. North, Tiffany Boughtwood

Bibliographic record

VenueThe American Journal of Human Genetics · 2025
Typereview
Languageen
FieldMedicine
TopicBiotechnology and Related Fields
Canadian institutionsGenome Canada
FundersNational Health and Medical Research CouncilMurdoch Children's Research Institute
KeywordsGenomicsBiologyGenomeGenetics

Abstract

fetched live from OpenAlex

The global landscape of health genomics is expanding rapidly, with an increasing number of national and international initiatives, many of which are targeted toward accelerating the clinical implementation of genomic technologies and services in the context of local health systems. This includes a range of entities with different levels of maturity, funding sources, and strategies that focus on research and clinical priorities to varying degrees. While there is no "one-size-fits-all" approach, analysis of national genomics programs helps to identify common priority areas, barriers, and enablers. Here, we synthesize the converging priorities of several national genomics programs to highlight the importance of progressing genomics research and clinical implementation on a national scale.

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)0.008
metaresearch head score (Gemma)0.007
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 score0.008
Threshold uncertainty score0.043

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0080.007
Meta-epidemiology (narrow)0.0010.000
Meta-epidemiology (broad)0.0010.001
Bibliometrics0.0040.004
Science and technology studies0.0010.002
Scholarly communication0.0040.006
Open science0.0010.003
Research integrity0.0020.005
Insufficient payload (model declined to judge)0.0020.001

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 head0.026
GPT teacher head0.339
Teacher spread0.313 · 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

Citations18
Published2025
Admission routes1
Has abstractyes

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