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Record W4361298788 · doi:10.1101/gr.277637.122

Proving sequence aligners can guarantee accuracy in almost <i>O</i> ( <i>m</i> log <i>n</i> ) time through an average-case analysis of the seed-chain-extend heuristic

2023· article· en· W4361298788 on OpenAlexafffund
Jim Shaw, Yun William Yu

Bibliographic record

VenueGenome Research · 2023
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenomics and Phylogenetic Studies
Canadian institutionsThe Scarborough HospitalUniversity of Toronto
FundersNatural Sciences and Engineering Research Council of Canada
KeywordsCombinatoricsSubstringChainingSequence (biology)Chain (unit)Upper and lower boundsMathematicsAlgorithmDiscrete mathematicsPhysicsBiologyComputer scienceData structureMathematical analysisGenetics

Abstract

fetched live from OpenAlex

Seed-chain-extend with k -mer seeds is a powerful heuristic technique for sequence alignment used by modern sequence aligners. Although effective in practice for both runtime and accuracy, theoretical guarantees on the resulting alignment do not exist for seed-chain-extend. In this work, we give the first rigorous bounds for the efficacy of seed-chain-extend with k -mers in expectation . Assume we are given a random nucleotide sequence of length ∼ n that is indexed (or seeded) and a mutated substring of length ∼ m ≤ n with mutation rate θ &lt; 0.206. We prove that we can find a k = Θ(log n ) for the k -mer size such that the expected runtime of seed-chain-extend under optimal linear-gap cost chaining and quadratic time gap extension is O ( mn f (θ) log n ), where f (θ) &lt; 2.43 · θ holds as a loose bound. The alignment also turns out to be good; we prove that more than <m:math xmlns:m="http://www.w3.org/1998/Math/MathML" display="inline" overflow="scroll"> <m:mn>1</m:mn> <m:mo>−</m:mo> <m:mi>O</m:mi> <m:mrow> <m:mo>(</m:mo> <m:mrow> <m:msqrt> <m:mstyle displaystyle="true" scriptlevel="0"> <m:mrow> <m:mfrac> <m:mn>1</m:mn> <m:mi>m</m:mi> </m:mfrac> </m:mrow> </m:mstyle> </m:msqrt> </m:mrow> <m:mo>)</m:mo> </m:mrow> </m:math> fraction of the homologous bases is recoverable under an optimal chain. We also show that our bounds work when k -mers are sketched , that is, only a subset of all k -mers is selected, and that sketching reduces chaining time without increasing alignment time or decreasing accuracy too much, justifying the effectiveness of sketching as a practical speedup in sequence alignment. We verify our results in simulation and on real noisy long-read data and show that our theoretical runtimes can predict real runtimes accurately. We conjecture that our bounds can be improved further, and in particular, f (θ) can be further reduced.

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)0.002
metaresearch head score (Gemma)0.000
Version: codex-gemma-dda1882f352aValidation 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: Empirical · Consensus signal: Empirical
Teacher disagreement score0.467
Threshold uncertainty score0.727

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0020.000
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0000.002
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 head0.060
GPT teacher head0.348
Teacher spread0.288 · 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.

The models applied no category: nothing in the taxonomy fit this work.
Study designBench or experimental
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

Citations14
Published2023
Admission routes2
Has abstractyes

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