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Record W2144824933 · doi:10.1101/gr.192278.115

The landscape of genomic imprinting across diverse adult human tissues

2015· article· en· W2144824933 on OpenAlexfundno aff
Yael Baran, Meena Subramaniam, Anne Biton, Taru Tukiainen, Emily K. Tsang, Manuel A. Rivas, Matti Pirinen, María Gutiérrez‐Arcelus, Kevin S. Smith, Kim Kukurba, Rui Zhang, Celeste Eng, Dara G. Torgerson, Cydney Urbanek, Jin Billy Li, José Rodríguez‐Santana, Esteban G. Burchard, Max A. Seibold, Daniel G. MacArthur, Stephen B. Montgomery, Noah Zaitlen, Tuuli Lappalainen

Bibliographic record

VenueGenome Research · 2015
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenetic Syndromes and Imprinting
Canadian institutionsnot available
FundersCommon FundNational Institute of Biomedical Imaging and BioengineeringNational Institute of Neurological Disorders and StrokeNational Institute of General Medical SciencesNational Cancer InstituteNational Human Genome Research InstituteUniversity of MiamiNatural Sciences and Engineering Research Council of CanadaNational Institutes of HealthOrionin TutkimussäätiöUniversité de GenèveNational Institute of Mental HealthNational Heart, Lung, and Blood InstituteEmil Aaltosen SäätiöIsrael Science FoundationU.S. Public Health ServiceSuomen KulttuurirahastoRoswell Park Cancer InstituteHewlett-Packard Development CompanyGerman-Israeli Foundation for Scientific Research and DevelopmentBroad InstituteUniversity of North CarolinaNIH Office of the DirectorVan Andel Research InstituteNational Institute on Drug AbuseScience Applications International CorporationUniversity of OxfordUniversity of ChicagoHarvard University
KeywordsImprinting (psychology)Genomic imprintingBiologyGeneticsGeneAlleleGene expressionGene expression profilingDNA methylation

Abstract

fetched live from OpenAlex

Genomic imprinting is an important regulatory mechanism that silences one of the parental copies of a gene. To systematically characterize this phenomenon, we analyze tissue specificity of imprinting from allelic expression data in 1582 primary tissue samples from 178 individuals from the Genotype-Tissue Expression (GTEx) project. We characterize imprinting in 42 genes, including both novel and previously identified genes. Tissue specificity of imprinting is widespread, and gender-specific effects are revealed in a small number of genes in muscle with stronger imprinting in males. IGF2 shows maternal expression in the brain instead of the canonical paternal expression elsewhere. Imprinting appears to have only a subtle impact on tissue-specific expression levels, with genes lacking a systematic expression difference between tissues with imprinted and biallelic expression. In summary, our systematic characterization of imprinting in adult tissues highlights variation in imprinting between genes, individuals, and tissues.

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)0.000
metaresearch head score (Gemma)0.000
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: none
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.001
Threshold uncertainty score0.003

Distilled classifier scores by category (both heads)

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

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 head0.066
GPT teacher head0.378
Teacher spread0.312 · 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 designObservational
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

Citations239
Published2015
Admission routes1
Has abstractyes

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