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Record W2160838716 · doi:10.1101/gr.185579.114

The Release 6 reference sequence of the <i>Drosophila melanogaster</i> genome

2015· article· en· W2160838716 on OpenAlexaff
Roger A. Hoskins, Joseph W. Carlson, Kenneth H. Wan, Soo Hyung Park, Ivonne Mendez, Samuel E. Galle, Benjamin W. Booth, Barret D. Pfeiffer, Reed George, Robert Svirskas, Martin Krzywinski, Jacqueline E. Schein, Maria Carmela Accardo, Elisabetta Damia, Giovanni Messina, María Méndez-Lago, Beatriz de Pablos, Olga V. Demakova, Evgeniya N. Andreyeva, Lidiya V. Boldyreva, Marco A. Marra, Antonio Bernardo Carvalho, Patrizio Dimitri, Alfredo Villasanté, И. Ф. Жимулев, Gerald M. Rubin, Gary H. Karpen, S Celniker

Bibliographic record

VenueGenome Research · 2015
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenomics and Phylogenetic Studies
Canadian institutionsBC Cancer Agency
FundersNational Institute of General Medical SciencesNational Human Genome Research InstituteConselho Nacional de Desenvolvimento Científico e TecnológicoFundação Carlos Chagas Filho de Amparo à Pesquisa do Estado do Rio de JaneiroNational Institutes of HealthIstituto Pasteur-Fondazione Cenci BolognettiMinisterio de Economía y CompetitividadU.S. Department of EnergyHoward Hughes Medical Institute
KeywordsBiologyReference genomeGeneticsContigGenomeSequence assemblyGenome projectComputational biologyPositional cloningBacterial artificial chromosomeGeneLocus (genetics)

Abstract

fetched live from OpenAlex

Drosophila melanogaster plays an important role in molecular, genetic, and genomic studies of heredity, development, metabolism, behavior, and human disease. The initial reference genome sequence reported more than a decade ago had a profound impact on progress in Drosophila research, and improving the accuracy and completeness of this sequence continues to be important to further progress. We previously described improvement of the 117-Mb sequence in the euchromatic portion of the genome and 21 Mb in the heterochromatic portion, using a whole-genome shotgun assembly, BAC physical mapping, and clone-based finishing. Here, we report an improved reference sequence of the single-copy and middle-repetitive regions of the genome, produced using cytogenetic mapping to mitotic and polytene chromosomes, clone-based finishing and BAC fingerprint verification, ordering of scaffolds by alignment to cDNA sequences, incorporation of other map and sequence data, and validation by whole-genome optical restriction mapping. These data substantially improve the accuracy and completeness of the reference sequence and the order and orientation of sequence scaffolds into chromosome arm assemblies. Representation of the Y chromosome and other heterochromatic regions is particularly improved. The new 143.9-Mb reference sequence, designated Release 6, effectively exhausts clone-based technologies for mapping and sequencing. Highly repeat-rich regions, including large satellite blocks and functional elements such as the ribosomal RNA genes and the centromeres, are largely inaccessible to current sequencing and assembly methods and remain poorly represented. Further significant improvements will require sequencing technologies that do not depend on molecular cloning and that produce very long reads.

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)0.001
metaresearch head score (Gemma)0.002
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: none
GenreCandidate signal: Dataset · Consensus signal: Dataset
Teacher disagreement score0.014
Threshold uncertainty score0.048

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0010.002
Meta-epidemiology (narrow)0.0010.001
Meta-epidemiology (broad)0.0010.001
Bibliometrics0.0020.002
Science and technology studies0.0010.000
Scholarly communication0.0010.001
Open science0.0010.001
Research integrity0.0010.001
Insufficient payload (model declined to judge)0.0140.023

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 head0.133
GPT teacher head0.345
Teacher spread0.212 · 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
GenreDataset

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

Citations576
Published2015
Admission routes1
Has abstractyes

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