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Record W2955280001 · doi:10.1101/688010

High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation

2019· preprint· en· W2955280001 on OpenAlexafffund
Lucie Abeler‐Dörner, Adam G. Laing, Anna Lorenc, Dmitry S. Ushakov, Simon Clare, Anneliese O. Speak, María Clara Duque, Jacqui White, Ramiro Ramírez‐Solis, Namita Saran, Katherine R. Bull, Belén Morón, Jua Iwasaki, P. Barton, Susana Caetano, Keng I. Hng, Emma L. Cambridge, Simon P. Forman, Tanya L. Crockford, Mark Griffiths, Leanne Kane, Katherine Harcourt, Cordelia Brandt, George Notley, Kola Babalola, Jonathan Warren, Jeremy Mason, Amrutha Meeniga, Natasha A. Karp, David Melvin, Eleanor Cawthorne, Brian Weinrick, Albina Rahim, Sibyl Drissler, Justin Meskas, Alice Yue, Markus Lux, George X. Song‐Zhao, Anna Chan, Carmen Ballesteros Reviriego, Johannes Abeler, Heather Wilson, Agnieszka Przemska-Kosicka, Matthew Edmans, Natasha Strevens, Markus Pasztorek, Terrence F. Meehan, Fiona Powrie, Ryan R. Brinkman, Gordon Dougan, William R. Jacobs, Clare M. Lloyd, Richard J. Cornall, Kevin J. Maloy, Richard K. Grencis, Gillian M. Griffiths, David J. Adams, Adrian Hayday

Bibliographic record

VenuebioRxiv (Cold Spring Harbor Laboratory) · 2019
Typepreprint
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicSingle-cell and spatial transcriptomics
Canadian institutionsUniversity of British Columbia
FundersCommon FundMedical Research CouncilNatural Sciences and Engineering Research Council of CanadaNational Institutes of HealthCancer Research UKKing's College LondonGenome British ColumbiaInternational Society for Advancement of CytometryGenome CanadaFrancis Crick InstituteWellcome TrustCanadian Institutes of Health Research
KeywordsBiologyImmune systemImmunophenotypingExpansiveGenetic variationImmunocompetenceGeneticsGeneComputational biologyImmunology

Abstract

fetched live from OpenAlex

ABSTRACT By developing a high-density murine immunophenotyping platform compatible with high-throughput genetic screening, we have established profound contributions of genetics and structure to immune variation. Specifically, high-throughput phenotyping of 530 knockout mouse lines identified 140 monogenic “hits” (>25%), most of which had never hitherto been implicated in immunology. Furthermore, they were conspicuously enriched in genes for which humans show poor tolerance to loss-of-function. The immunophenotyping platform also exposed dense correlation networks linking immune parameters with one another and with specific physiologic traits. By limiting the freedom of individual immune parameters, such linkages impose genetically regulated “immunological structures”, whose integrity was found to be associated with immunocompetence. Hence, our findings provide an expanded genetic resource and structural perspective for understanding and monitoring immune variation in health and disease.

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: Bench or experimental · Consensus signal: Bench or experimental
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.287
Threshold uncertainty score1.000

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0000.000
Meta-epidemiology (narrow)0.0000.001
Meta-epidemiology (broad)0.0010.000
Bibliometrics0.0000.000
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0000.000
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 head0.009
GPT teacher head0.204
Teacher spread0.195 · 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 designBench or experimental
Domainnot available
GenreEmpirical

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

Citations7
Published2019
Admission routes2
Has abstractyes

Explore more

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