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Record W3005354177 · doi:10.1186/s13059-020-1931-9

The Deep Genome Project

2020· editorial· en· W3005354177 on OpenAlexaff
K. C. Kent Lloyd, David J. Adams, Gareth Baynam, Arthur L. Beaudet, Fátima Bosch, Kym M. Boycott, Robert E. Braun, Mark J. Caulfield, Ronald D. Cohn, Mary E. Dickinson, Michael S. Dobbie, Ann M. Flenniken, Paul Flicek, Sanjeev Galande, Xiang Gao, Anne Grobler, Jason D. Heaney, Yann Hérault, Martin Hrabě de Angelis, James R. Lupski, Stanislas Lyonnet, Ann‐Marie Mallon, Fabio Mammano, Calum A. MacRae, Roderick R. McInnes, Colin McKerlie, Terrence F. Meehan, Stephen A. Murray, Lauryl M. J. Nutter, Yuichi Obata, Helen Parkinson, Michael S. Pepper, Radislav Sedláček, Je Kyung Seong, Toshihiko Shiroishi, Damian Smedley, Glauco P. Tocchini‐Valentini, David Valle, Chi‐Kuang Leo Wang, Sara Wells, Jacqueline K. White, Wolfgang Wurst, Ying Xu, Steve D. M. Brown

Bibliographic record

VenueGenome biology · 2020
Typeeditorial
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicCRISPR and Genetic Engineering
Canadian institutionsToronto Centre for PhenogenomicsSickKids FoundationLunenfeld-Tanenbaum Research InstituteHospital for Sick ChildrenJewish General HospitalUniversity of OttawaMcGill UniversityChildren's Hospital of Eastern Ontario
FundersNational Human Genome Research InstituteNational Institutes of HealthBritish Heart FoundationMedical Research CouncilNational Institute for Health and Care Research
KeywordsBiologyGenomeComputational biologyModel organismHuman genomeGenome projectIn silicoHuman geneticsGeneticsGenome editingGenomicsFunctional genomicsRecombineeringGene

Abstract

fetched live from OpenAlex

In vivo research is critical to the functional dissection of
\nmulti-organ systems and whole organism physiology, and
\nthe laboratory mouse remains a quintessential animal model
\nfor studying mammalian, especially human, pathobiology.
\nEnabled by technological innovations in genome sequencing,
\nmutagenesis and genome editing, phenotype analyses, and
\nbioinformatics, in vivo analysis of gene function and dysfunction
\nin the mouse has delivered new understanding of the
\nmechanisms of disease and accelerated medical advances.
\nHowever, many significant hurdles have limited the elucidation
\nof mechanisms underlying both rare and complex,
\nmultifactorial diseases, leaving significant gaps in our scientific
\nknowledge. Future progress in developing a functionally
\nannotated genome map depends upon studies in model organisms,
\nnot least the mouse. Further, recent advances in
\ngenetic manipulation and in vivo, in vitro, and in silico phenotyping
\ntechnologies in the mouse make annotation of the
\nvast majority of functional elements within the mammalian
\ngenome feasible. The implementation of a Deep Genome
\nProject—to deliver the functional biological annotation of all human orthologous genomic elements in mice—is an essential
\nand executable strategy to transform our understanding
\nof genetic and genomic variation in human health and disease
\nthat will catalyze delivery of the promised benefits of
\ngenomic medicine to children and adults around the world.

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 categoriesMeta-epidemiology (narrow)
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Not applicable · Consensus signal: Not applicable
GenreCandidate signal: Editorial · Consensus signal: Editorial
Teacher disagreement score0.329
Threshold uncertainty score1.000

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 science0.0010.000
Research integrity0.0010.000
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 head0.007
GPT teacher head0.307
Teacher spread0.300 · 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.

Study designNot applicable
Domainnot available
GenreEditorial

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

Citations44
Published2020
Admission routes1
Has abstractyes

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