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Record W2734480429 · doi:10.1101/161638

Large-Scale Uniform Analysis of Cancer Whole Genomes in Multiple Computing Environments

2017· preprint· en· W2734480429 on OpenAlexaff
Christina K. Yung, Brian D. O’Connor, Sergei Yakneen, Junjun Zhang, Kyle Ellrott, Kortine Kleinheinz, Naoki Miyoshi, Keiran Raine, Romina Royo, Gordon Saksena, Matthias Schlesner, Solomon I. Shorser, Miguel Vazquez, Joachim Weischenfeldt, Denis Yuen, Adam P. Butler, Brandi N. Davis‐Dusenbery, Roland Eils, Vincent Ferretti, Robert L. Grossman, Olivier Harismendy, Young-Wook Kim, Hidewaki Nakagawa, Steven Newhouse, David Torrents, Lincoln D. Stein, Javier Bartolomé Rodriguez, Keith A. Boroevich, Rich Boyce, Angela N. Brooks, Alex Buchanan, Ivo Buchhalter, Niall J. Byrne, Andy Cafferkey, Peter J. Campbell, Zhaohong Chen, Sunghoon Cho, Wan Choi, Peter Clapham, Francisco M. De La Vega, Jonas Demeulemeester, Michelle T. Dow, Lewis Jonathan Dursi, Claudiu Farcas, Francesco Favero, Nodirjon Fayzullaev, Paul Flicek, Nuno A. Fonseca, Josep L. L. Gelpi, Gad Getz, Bob Gibson, Michael C. Heinold, Julian M. Hess, Oliver Hofmann, Jongwhi H. Hong, Thomas J. Hudson, Daniel Hüebschmann, Barbara Hutter, Carolyn M. Hutter, Seiya Imoto, Sinisa Ivkovic, Seung-Hyup Jeon, Wei Jiao, Jongsun Jung, Rolf Kabbe, André Kahles, Jules N. A. Kerssemakers, Hyunghwan Kim, Hyung‐Lae Kim, Jihoon Kim, Jan O. Korbel, Michael Koscher, Antonios Koures, Milena Kovacevic, Chris Lawerenz, Ignaty Leshchiner, Dimitri Livitz, George L. Mihaiescu, Sanja Mijalković, Ana Mijalkovic Lazic, Satoru Miyano, Hardeep K. Nahal-Bose, Mia Nastic, Jonathan Nicholson, David Ocaña, Kazuhiro Ohi, Lucila Ohno‐Machado, Larsson Omberg, B. F. Francis Ouellette, Nagarajan Paramasivam, Marc D. Perry, Todd Pihl, Manuel Prinz, Montserrat Puiggròs, Petar Radovic, Esther Rheinbay, Mara Rosenberg, Charles Short, Heidi J. Sofia, Jonathan Spring, Adam J. Struck, Grace Tiao, Nebojša Tijanić, Peter Van Loo, David Vicente, Jeremiah A. Wala, Zhining Wang, Johannes Werner, Ashley Williams, Youngchoon Woo, A. Jordan Wright, Qian Xiang

Bibliographic record

VenuebioRxiv (Cold Spring Harbor Laboratory) · 2017
Typepreprint
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicCancer Genomics and Diagnostics
Canadian institutionsOntario GenomicsHospital for Sick ChildrenUniversity of TorontoOntario Institute for Cancer Research
FundersBarcelona Supercomputing CenterPartnership for Advanced Computing in Europe AISBL
KeywordsWorkflowReplicateCoding (social sciences)GenomeComputer scienceCategorizationSoftwareGermlineToolboxArtifact (error)Data miningComputational biologyData scienceBiologyGeneticsStatisticsArtificial intelligenceDatabaseMathematicsGene

Abstract

fetched live from OpenAlex

Abstract The International Cancer Genome Consortium (ICGC)’s Pan-Cancer Analysis of Whole Genomes (PCAWG) project aimed to categorize somatic and germline variations in both coding and non-coding regions in over 2,800 cancer patients. To provide this dataset to the research working groups for downstream analysis, the PCAWG Technical Working Group marshalled ~800TB of sequencing data from distributed geographical locations; developed portable software for uniform alignment, variant calling, artifact filtering and variant merging; performed the analysis in a geographically and technologically disparate collection of compute environments; and disseminated high-quality validated consensus variants to the working groups. The PCAWG dataset has been mirrored to multiple repositories and can be located using the ICGC Data Portal. The PCAWG workflows are also available as Docker images through Dockstore enabling researchers to replicate our analysis on their own data.

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 distilled prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.

metaresearch head score (Codex)0.000
metaresearch head score (Gemma)0.000
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesMeta-epidemiology (narrow)
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: none
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.300
Threshold uncertainty score1.000

Codex and Gemma teacher scores by category

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

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 head0.011
GPT teacher head0.236
Teacher spread0.225 · 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 teacher head, not a consensus.

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

Citations29
Published2017
Admission routes1
Has abstractyes

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