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Record W4404261746 · doi:10.1101/2024.11.11.622097

Codebook: sequence specificity and genomic binding of poorly-characterized human transcription factors

2024· preprint· en· W4404261746 on OpenAlexaff
Arttu Jolma, Kaitlin U. Laverty, Ali Fathi, Ally Yang, Isaac Yellan, Ilya E. Vorontsov, Sachi Inukai, Judith F. Kribelbauer, Antoni J. Gralak, Rozita Razavi, Mihai Albu, Alexander Brechalov, Zain M. Patel, Vladimir Nozdrin, G. A. Meshcheryakov, Ivan Kozin, Sergey Abramov, Alexandr Boytsov, Jan Grau, Ivo Große, Philipp Bücher

Bibliographic record

VenuebioRxiv (Cold Spring Harbor Laboratory) · 2024
Typepreprint
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenomics and Chromatin Dynamics
Canadian institutionsMcGill Genome CentreUniversity of British ColumbiaBC Children's HospitalUniversity of Toronto
FundersSchweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung
KeywordsCodebookComputational biologySequence (biology)Transcription (linguistics)GeneticsBiologyComputer scienceArtificial intelligenceLinguisticsPhilosophy

Abstract

fetched live from OpenAlex

SUMMARY Gene expression is regulated by transcription factors (TFs), which recognize specific DNA sequence motifs. Several hundred putative human TFs, identified mainly by an apparent DNA-binding domain, lack known binding motifs 1 , and even for well-characterized TFs, it remains controversial to what degree motifs accurately reflect binding sites in living cells 2,3 . Here, we describe a systematic effort (“Codebook”) to determine the sequence specificity of 332 putative and poorly characterized human TFs. Over 4,000 independent experiments, encompassing multiple in vitro and in vivo assays, produced motifs for just over half (177, or 53%), of which most are unique to a single protein, thereby extending the vocabulary of sequence recognition encoded by human TFs by ∼100 distinct motifs. Moreover, binding motifs identified in vitro are strongly enriched within cellular binding sites. Collectively, the data reveal tens of thousands of previously unknown, conserved, and direct TF binding sites across the human genome. These sites are concentrated in promoter regions, and are predictive of gene expression, illustrating that this new data atlas provides an important step forward in decoding the human genome.

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)0.001
metaresearch head score (Gemma)0.003
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Bench or experimental · Consensus signal: Bench or experimental
GenreCandidate signal: Dataset · Consensus signal: none
Teacher disagreement score0.004
Threshold uncertainty score0.012

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0010.003
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0010.000
Bibliometrics0.0010.001
Science and technology studies0.0000.000
Scholarly communication0.0010.000
Open science0.0010.001
Research integrity0.0000.000
Insufficient payload (model declined to judge)0.0040.002

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 head0.018
GPT teacher head0.226
Teacher spread0.207 · 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 designBench or experimental
Domainnot available
GenreDataset

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

Citations9
Published2024
Admission routes1
Has abstractyes

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Same venuebioRxiv (Cold Spring Harbor Laboratory)Same topicGenomics and Chromatin DynamicsFrench-language works237,207