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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 multi-organ systems and whole organism physiology, and the laboratory mouse remains a quintessential animal model for studying mammalian, especially human, pathobiology. Enabled by technological innovations in genome sequencing, mutagenesis and genome editing, phenotype analyses, and bioinformatics, in vivo analysis of gene function and dysfunction in the mouse has delivered new understanding of the mechanisms of disease and accelerated medical advances. However, many significant hurdles have limited the elucidation of mechanisms underlying both rare and complex, multifactorial diseases, leaving significant gaps in our scientific knowledge. Future progress in developing a functionally annotated genome map depends upon studies in model organisms, not least the mouse. Further, recent advances in genetic manipulation and in vivo, in vitro, and in silico phenotyping technologies in the mouse make annotation of the vast majority of functional elements within the mammalian genome feasible. The implementation of a Deep Genome Project—to deliver the functional biological annotation of all human orthologous genomic elements in mice—is an essential and executable strategy to transform our understanding of genetic and genomic variation in human health and disease that will catalyze delivery of the promised benefits of genomic 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 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)0.004
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: Not applicable
GenreCandidate signal: Editorial · Consensus signal: none
Teacher disagreement score0.062
Threshold uncertainty score0.208

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0040.007
Meta-epidemiology (narrow)0.0030.001
Meta-epidemiology (broad)0.0030.002
Bibliometrics0.0030.005
Science and technology studies0.0020.001
Scholarly communication0.0050.003
Open science0.0040.007
Research integrity0.0030.004
Insufficient payload (model declined to judge)0.0620.047

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 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
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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