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Record W3133283981 · doi:10.1038/s41467-021-21254-9

Uniform genomic data analysis in the NCI Genomic Data Commons

2021· article· en· W3133283981 on OpenAlexfundno aff
Zhenyu Zhang, Kyle M. Hernandez, Jeremiah Savage, Shenglai Li, Daniel P. Miller, Stuti Agrawal, Francisco Ortuño, Louis M. Staudt, Allison P. Heath, Robert L. Grossman

Bibliographic record

VenueNature Communications · 2021
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicCancer Genomics and Diagnostics
Canadian institutionsnot available
FundersNational Cancer InstituteNational Institutes of HealthUniversity of Texas MD Anderson Cancer CenterCanada's Michael Smith Genome Sciences CentreU.S. Department of Health and Human Services
KeywordsWorkflowEpigenomicsData sharingRaw dataComputational biologyGenomicsPrecision medicineComputer scienceDNA methylationGenomeBiologyBioinformaticsDatabaseGeneticsGeneMedicineGene expression

Abstract

fetched live from OpenAlex

The goal of the National Cancer Institute's (NCI's) Genomic Data Commons (GDC) is to provide the cancer research community with a data repository of uniformly processed genomic and associated clinical data that enables data sharing and collaborative analysis in the support of precision medicine. The initial GDC dataset include genomic, epigenomic, proteomic, clinical and other data from the NCI TCGA and TARGET programs. Data production for the GDC started in June, 2015 using an OpenStack-based private cloud. By June of 2016, the GDC had analyzed more than 50,000 raw sequencing data inputs, as well as multiple other data types. Using the latest human genome reference build GRCh38, the GDC generated a variety of data types from aligned reads to somatic mutations, gene expression, miRNA expression, DNA methylation status, and copy number variation. In this paper, we describe the pipelines and workflows used to process and harmonize the data in the GDC. The generated data, as well as the original input files from TCGA and TARGET, are available for download and exploratory analysis at the GDC Data Portal and Legacy Archive ( https://gdc.cancer.gov/ ).

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)0.044
metaresearch head score (Gemma)0.125
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: Methods · Consensus signal: none
Teacher disagreement score0.044
Threshold uncertainty score0.235

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0440.125
Meta-epidemiology (narrow)0.0010.002
Meta-epidemiology (broad)0.0020.002
Bibliometrics0.0090.019
Science and technology studies0.0030.003
Scholarly communication0.0100.006
Open science0.0080.019
Research integrity0.0020.005
Insufficient payload (model declined to judge)0.0220.015

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 head0.046
GPT teacher head0.335
Teacher spread0.289 · 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
GenreMethods

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

Citations148
Published2021
Admission routes1
Has abstractyes

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