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Addressing key challenges in sample handling for high-quality reference genome generation

2025· preprint· en· W4411548574 on OpenAlexfundno aff
Katja Reichel, Jaakko Pohjoismäki, Jonas J. Astrin, Astrid Böhne, Chiara Bortoluzzi, Elena Bužan, Javier del Campo, Claúdio Ciofi, Camilla Bruno Di‐Nizo, Pradeep K. Divakar, Carola Greve, Vladimı́r Hampl, Leon Hilgers, Veronika N. Laine, Jennifer A. Leonard, Jesús Lozano-Fernández, Lada Lukić‐Bilela, Camila J. Mazzoni, Ann M. Mc Cartney, José Melo‐Ferreira, Rita Monteiro, Rebekah A. Oomen, Martina Pavlek, João Pimenta, Michal Rindoš, Ole Seehausen, Andrii Tarieiev, Salvatore Tomasello, Olga Vinnere Pettersson, Robert M. Waterhouse, Alexandra Anh‐Thu Weber, Oleksandr Zinenko, Christian de Guttry

Bibliographic record

Venuenot available
Typepreprint
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenomics and Phylogenetic Studies
Canadian institutionsnot available
FundersInterregAgencia Estatal de InvestigaciónFundação para a Ciência e a TecnologiaVetenskapsrådetScience for Life LaboratoryHORIZON EUROPE Framework ProgrammeMinisterio de Ciencia, Innovación y UniversidadesFreie Universität BerlinNatural Sciences and Engineering Research Council of CanadaEuropean Regional Development FundNew Brunswick Innovation FoundationEuropean CommissionUK Research and InnovationStaatssekretariat für Bildung, Forschung und InnovationDeutsche Forschungsgemeinschaft
KeywordsKey (lock)Sample (material)Computer scienceQuality (philosophy)Computational biologyBiologyComputer securityChemistryChromatography

Abstract

fetched live from OpenAlex

High-quality reference genome assemblies have become essential for deepening our understanding of biodiversity, yet obtaining them for many species remains surprisingly challenging.Drawing on experiences from the European Reference Genome Atlas (ERGA) community, we focus on permit and sample-handling procedures leading up to nucleic acid sequencing, covering tasks such as ensuring ethical and legal compliance, verifying accurate species identification, maintaining sample integrity during transport, and isolating high-quality DNA or nuclei.By synthesizing practical guidance, we highlight the value of taxonomic expertise, proper vouchering and biobanking, rigorous cold-chain management or alternative preservation methods, and emphasize adherence to packaging and shipping requirements for biological materials.We showcase examples spanning diverse regions, taxa, and source materials, which underscore the importance of context-specific strategies and internationally harmonised protocols, particularly for metadata reporting.Our recommendations aim to support both small-scale projects and large initiatives, directing collective efforts to facilitate efficient sampling, vouchering, and sample processing for future genomic studies.

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)0.106
metaresearch head score (Gemma)0.156
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Bench or experimental · Consensus signal: none
GenreCandidate signal: Methods · Consensus signal: Methods
Teacher disagreement score0.106
Threshold uncertainty score0.560

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.1060.156
Meta-epidemiology (narrow)0.0020.001
Meta-epidemiology (broad)0.0020.001
Bibliometrics0.0040.005
Science and technology studies0.0040.006
Scholarly communication0.0140.007
Open science0.0060.010
Research integrity0.0050.007
Insufficient payload (model declined to judge)0.0060.009

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 head0.289
GPT teacher head0.374
Teacher spread0.085 · 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 designBench or experimental
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

Citations1
Published2025
Admission routes1
Has abstractyes

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