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Record W3039110853 · doi:10.1038/s41467-020-16785-6

A user guide for the online exploration and visualization of PCAWG data

2020· article· en· W3039110853 on OpenAlexafffund
Mary J. Goldman, Junjun Zhang, Nuno A. Fonseca, Isidro Cortés‐Ciriano, Qian Xiang, Brian Craft, Elena Piñeiro-Yáñez, Brian D. O’Connor, Wojciech Bażant, Elisabet Barrera, Alfonso Muñoz-Pomer Fuentes, Robert Petryszak, Anja Füllgrabe, Fátima Al‐Shahrour, Maria Keays, David Haussler, John N. Weinstein, Wolfgang Huber, Alfonso Valencia, Peter J. Park, Irene Papatheodorou, Jingchun Zhu, Vincent Ferretti, Miguél Vázquez

Bibliographic record

VenueNature Communications · 2020
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenomics and Phylogenetic Studies
Canadian institutionsCentre Hospitalier Universitaire Sainte-JustineOntario Institute for Cancer Research
FundersDivision of Integrative Organismal SystemsEuropean CommissionGovernment of OntarioEuropean Molecular Biology LaboratoryNational Cancer InstituteNational Institutes of HealthNational Science FoundationOntario Institute for Cancer ResearchWellcome Trust
KeywordsVisualizationGenomicsComputer scienceGenomeChromothripsisComputational biologyResource (disambiguation)Genome browserData scienceWorld Wide WebBiologyData miningGeneticsGene

Abstract

fetched live from OpenAlex

The Pan-Cancer Analysis of Whole Genomes (PCAWG) project generated a vast amount of whole-genome cancer sequencing resource data. Here, as part of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium, which aggregated whole genome sequencing data from 2658 cancers across 38 tumor types, we provide a user's guide to the five publicly available online data exploration and visualization tools introduced in the PCAWG marker paper. These tools are ICGC Data Portal, UCSC Xena, Chromothripsis Explorer, Expression Atlas, and PCAWG-Scout. We detail use cases and analyses for each tool, show how they incorporate outside resources from the larger genomics ecosystem, and demonstrate how the tools can be used together to understand the biology of cancers more deeply. Together, the tools enable researchers to query the complex genomic PCAWG data dynamically and integrate external information, enabling and enhancing interpretation.

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)0.005
metaresearch head score (Gemma)0.025
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesInsufficient payload (model declined to judge)
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 score0.330
Threshold uncertainty score0.956

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0050.025
Meta-epidemiology (narrow)0.0030.002
Meta-epidemiology (broad)0.0020.002
Bibliometrics0.0060.007
Science and technology studies0.0010.001
Scholarly communication0.0040.004
Open science0.0040.005
Research integrity0.0020.004
Insufficient payload (model declined to judge)0.3300.181

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 head0.089
GPT teacher head0.371
Teacher spread0.282 · 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 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

Citations46
Published2020
Admission routes2
Has abstractyes

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Same venueNature CommunicationsSame topicGenomics and Phylogenetic StudiesFrench-language works237,207