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Record W3027467214 · doi:10.1101/2020.05.22.110833

Towards complete and error-free genome assemblies of all vertebrate species

2020· preprint· en· W3027467214 on OpenAlexaff
Arang Rhie, Shane McCarthy, Olivier Fédrigo, Joana Damas, Giulio Formenti, Sergey Koren, Marcela Uliano‐Silva, William Chow, Arkarachai Fungtammasan, Gregory Gedman, Lindsey Cantin, Françoise Thibaud‐Nissen, Leanne Haggerty, Chul Lee, Byung June Ko, Iliana Bista, Michelle Smith, Bettina Haase, Jacquelyn Mountcastle, Sylke Winkler, Sadye Paez, Jason T. Howard, Sonja C. Vernes, Tanya M. Lama, Frank Grützner, Wesley C. Warren, Christopher N. Balakrishnan, David W. Burt, Julia M. George, Mathew Biegler, David Iorns, Andrew Digby, Daryl Eason, Taylor Edwards, Mark Wilkinson, George F. Turner, Axel Meyer, Andreas F. Kautt, Paolo Franchini, H. William Detrich, Hannes Svardal, Maximilian Wagner, Gavin J. P. Naylor, Martin Pippel, Milan Malinsky, Mark P. Mooney, Maria Simbirsky, Brett T. Hannigan, Trevor Pesout, Marlys L. Houck, Ann Misuraca, Sarah B. Kingan, Richard Hall, Zev Kronenberg, Jonas Korlach, Ivan Sović, Christopher Dunn, Zemin Ning, Alex Hastie, Joyce Lee, Siddarth Selvaraj, Richard E. Green, Nicholas H. Putnam, Jay Ghurye, Erik Garrison, Ying Sims, Joanna Collins, Sarah Pelan, James Torrance, Alan Tracey, Jonathan Wood, Dengfeng Guan, Sarah E. London, David F. Clayton, Claudio V. Mello, Samantha R. Friedrich, Peter V. Lovell, Ekaterina Osipova, Farooq O. Al-Ajli, Simona Secomandi, Heebal Kim, Constantina Theofanopoulou, Yang Zhou, Robert S. Harris, Kateryna D. Makova, Paul Medvedev, Jinna Hoffman, Patrick Masterson, Karen Clark, Fergal J. Martin, Kevin Howe, Paul Flicek, Brian P. Walenz, Woori Kwak, Hiram Clawson, Mark Diekhans, Luis R Nassar, Benedict Paten, R.H. Kraus, Harris A. Lewin, Andrew J. Crawford, M. Thomas P. Gilbert, Guojie Zhang, Byrappa Venkatesh, Robert W. Murphy, Klaus‐Peter Koepfli, Beth Shapiro, Warren E. Johnson, Federica Di Palma, Tomas Margues-Bonet, Emma C. Teeling, Tandy Warnow, Jennifer A. Marshall Graves, Oliver A. Ryder, David Hausler, Stephen J. O’Brien, Kerstin Howe, Eugene W. Myers, Richard Durbin, Adam M. Phillippy, Erich D. Jarvis

Bibliographic record

VenuebioRxiv (Cold Spring Harbor Laboratory) · 2020
Typepreprint
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenomics and Phylogenetic Studies
Canadian institutionsRoyal Ontario Museum
FundersNational Human Genome Research InstituteLeibniz-GemeinschaftWellcome TrustDanmarks GrundforskningsfondBiotechnology and Biological Sciences Research CouncilNational Institutes of HealthAgencia Estatal de InvestigaciónLeibniz-Institut für Zoo- und WildtierforschungMax-Planck-GesellschaftNational Key Research and Development Program of ChinaKorea Health Industry Development InstituteGeneralitat de CatalunyaBundesministerium für Bildung und ForschungCentres de Recerca de CatalunyaMonash UniversityBiomedical Research CouncilHessisches Ministerium für Wissenschaft und KunstNational Research FoundationIrish Research CouncilEuropean CommissionEuropean Molecular Biology LaboratoryOxford Nanopore TechnologiesMonash University MalaysiaNational Science Foundation
KeywordsGenomeVertebrateBiologyExtant taxonEvolutionary biologyGenomicsReference genomeComputational biologyGeneticsGene

Abstract

fetched live from OpenAlex

Abstract High-quality and complete reference genome assemblies are fundamental for the application of genomics to biology, disease, and biodiversity conservation. However, such assemblies are only available for a few non-microbial species 1–4 . To address this issue, the international Genome 10K (G10K) consortium 5,6 has worked over a five-year period to evaluate and develop cost-effective methods for assembling the most accurate and complete reference genomes to date. Here we summarize these developments, introduce a set of quality standards, and present lessons learned from sequencing and assembling 16 species representing major vertebrate lineages (mammals, birds, reptiles, amphibians, teleost fishes and cartilaginous fishes). We confirm that long-read sequencing technologies are essential for maximizing genome quality and that unresolved complex repeats and haplotype heterozygosity are major sources of error in assemblies. Our new assemblies identify and correct substantial errors in some of the best historical reference genomes. Adopting these lessons, we have embarked on the Vertebrate Genomes Project (VGP), an effort to generate high-quality, complete reference genomes for all ~70,000 extant vertebrate species and help enable a new era of discovery across the life sciences.

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)0.010
metaresearch head score (Gemma)0.018
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Theoretical or conceptual · Consensus signal: none
GenreCandidate signal: Empirical · Consensus signal: none
Teacher disagreement score0.010
Threshold uncertainty score0.054

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0100.018
Meta-epidemiology (narrow)0.0020.002
Meta-epidemiology (broad)0.0010.002
Bibliometrics0.0030.002
Science and technology studies0.0020.001
Scholarly communication0.0050.004
Open science0.0030.003
Research integrity0.0030.004
Insufficient payload (model declined to judge)0.0040.007

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 head0.032
GPT teacher head0.228
Teacher spread0.196 · 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 designTheoretical or conceptual
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

Citations195
Published2020
Admission routes1
Has abstractyes

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