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Record W2963414887 · doi:10.1016/j.cels.2019.06.006

Before and After: Comparison of Legacy and Harmonized TCGA Genomic Data Commons’ Data

2019· article· en· W2963414887 on OpenAlexaff
Galen F. Gao, Joel S. Parker, Sheila M. Reynolds, Tiago C. Silva, Liang-Bo Wang, Wanding Zhou, Rehan Akbani, Matthew H. Bailey, Saianand Balu, Benjamin P. Berman, Denise Brooks, Hu Chen, Andrew D. Cherniack, John A. Demchok, Li Ding, Ina Felau, Sharon Gaheen, Daniela S. Gerhard, David I. Heiman, Kyle M. Hernandez, Katherine A. Hoadley, Reyka G. Jayasinghe, Anab Kemal, Theo Knijnenburg, Peter W. Laird, Michael K.A. Mensah, Andrew J. Mungall, A. Gordon Robertson, Hui Shen, Roy Tarnuzzer, Zhining Wang, Matthew A. Wyczalkowski, Liming Yang, Jean C. Zenklusen, Zhenyu Zhang, Han Liang, Michael S. Noble

Bibliographic record

VenueCell Systems · 2019
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicCancer Genomics and Diagnostics
Canadian institutionsCanada's Michael Smith Genome Sciences Centre
FundersNational Institute of Environmental Health SciencesNational Cancer Institute
KeywordsComputational biologyComputer scienceBiology

Abstract

fetched live from OpenAlex

We present a systematic analysis of the effects of synchronizing a large-scale, deeply characterized, multi-omic dataset to the current human reference genome, using updated software, pipelines, and annotations. For each of 5 molecular data platforms in The Cancer Genome Atlas (TCGA)-mRNA and miRNA expression, single nucleotide variants, DNA methylation and copy number alterations-comprehensive sample, gene, and probe-level studies were performed, towards quantifying the degree of similarity between the 'legacy' GRCh37 (hg19) TCGA data and its GRCh38 (hg38) version as 'harmonized' by the Genomic Data Commons. We offer gene lists to elucidate differences that remained after controlling for confounders, and strategies to mitigate their impact on biological interpretation. Our results demonstrate that the hg19 and hg38 TCGA datasets are very highly concordant, promote informed use of either legacy or harmonized omics data, and provide a rubric that encourages similar comparisons as new data emerge and reference data evolve.

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)0.036
metaresearch head score (Gemma)0.098
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesMetaresearch
Consensus categoriesnone
DomainCandidate signal: Reproducibility · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: Observational
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.964
Threshold uncertainty score0.189

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0360.098
Meta-epidemiology (narrow)0.0010.001
Meta-epidemiology (broad)0.0010.002
Bibliometrics0.0040.008
Science and technology studies0.0010.001
Scholarly communication0.0040.002
Open science0.0030.004
Research integrity0.0010.002
Insufficient payload (model declined to judge)0.0030.001

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 head0.026
GPT teacher head0.270
Teacher spread0.244 · 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.

Study designObservational
DomainReproducibility
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

Citations199
Published2019
Admission routes1
Has abstractyes

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