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Record W3004424985 · doi:10.1101/2020.02.10.942599

Mapping short reads, faithfully

2020· preprint· en· W3004424985 on OpenAlexaff
Eduard Zorita, Ruggero Cortini, Guillaume J. Filion

Bibliographic record

VenuebioRxiv (Cold Spring Harbor Laboratory) · 2020
Typepreprint
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenomics and Phylogenetic Studies
Canadian institutionsThe Scarborough HospitalUniversity of Toronto
FundersMinisterio de Asuntos Económicos y Transformación Digital, Gobierno de España
KeywordsComputer scienceHeuristicsSoftwareReference genomeProcess (computing)Reliability (semiconductor)ExploitKey (lock)Data miningDNA sequencingProgramming language

Abstract

fetched live from OpenAlex

Abstract Mapping is the process of finding the original location of a DNA read in a reference sequence, typically a genome. Short read mappers are software tools used in most applications that involve high-throughput sequencing. As such, they must be continuously improved to keep up with increasing needs. Modern mappers rely on seeding heuristics, making them fast but inexact. For lack of a method to compute the reliability of their own output, mappers have so far used approximations of variable quality. Here we focus on faithfulness, the capacity to provide accurate mapping confidence, and we devise a strategy to map short reads faithfully. The key is to estimate the repetitiveness of the target reference, which is the dominant factor for the reliability of the mapping process. This approach highlights the existence of a class of reads that can be mapped with unprecedented confidence. We exploit this strategy in a prototype mapper that is competitive with state-of-the-art mappers BWA-MEM and Bowtie2, with the benefit of faithfulness. The software is open-source and available for download at https://github.com/gui11aume/mmp .

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)0.003
metaresearch head score (Gemma)0.022
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: Bench or experimental
GenreCandidate signal: Methods · Consensus signal: Methods
Teacher disagreement score0.006
Threshold uncertainty score0.019

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0030.022
Meta-epidemiology (narrow)0.0010.001
Meta-epidemiology (broad)0.0010.001
Bibliometrics0.0010.001
Science and technology studies0.0010.001
Scholarly communication0.0020.003
Open science0.0020.002
Research integrity0.0020.002
Insufficient payload (model declined to judge)0.0060.005

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 head0.018
GPT teacher head0.217
Teacher spread0.199 · 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
Published2020
Admission routes1
Has abstractyes

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