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Record W7003489788

Genome Graphs

2010· dissertation· en· W7003489788 on OpenAlex

Why this work is in the frame

A frame that forgets how it found something cannot be audited. These are the routes that admitted this work.

venuePublished in a venue whose home country is Canada.
no affNo Canadian affiliation: this work is invisible to an affiliation-only frame.
No Canadian affiliation. An affiliation-only frame, the usual design, would never have seen this work. It is one of the works that make the case for inverting the frame.

Bibliographic record

VenueLibrary and Archives Canada (Government of Canada) · 2010
Typedissertation
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenome Rearrangement Algorithms
Canadian institutionsnot available
Fundersnot available
KeywordsGenomeHybrid genome assemblyShotgun sequencingReference genomeGenomicsSequence (biology)Sequence assemblyDNA sequencing
DOInot available

Abstract

fetched live from OpenAlex

Whole-genome shotgun sequencing is an experimental technique used for obtaining information about a genome’s sequence, whereby it is broken up into many short (possibly overlapping) segments whose sequence is then determined. A long-standing use of sequencing is in genome assembly – the problem of determining the sequence of an unknown genome, which plays a central role for the sequencing of novel species. However, even within the same species, the genomes of two individuals differ, and though these variations are relatively small, they account for the observed variation in phenotypes. A large portion of these are copy number variants (CNVs), or genomic segments which appear a different number of times in different individuals.\n The unifying theme of this thesis is the use of genome graphs for both CNV detection and genome assembly problems. Genome graphs, which have already been successfully used for alignment and assembly, capture the structure of a genome even when its sequence is not fully known, as with the case of sequencing data. In this thesis, we extend\ntheir uses in several ways, culminating in a method for CNV detection that is based on a novel genome graph model. First, we demonstrate how the double-stranded nature of\nDNA can be efficiently incorporated into genome graphs by using the technique of bidirected network flow. Furthermore, we show how genome graphs can be efficiently used for finding solutions that maximize the likelihood of the data, as opposed to the usual maximum parsimony approach. Finally, we show how genome graphs can be useful for\nCNV detection through a novel construction called the donor graph. These extensions are combined into a method for detecting CNVs, which we use on a Yoruban human individual, showing a high degree of accuracy and improvement over previous methods.

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.

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)0.000
metaresearch head score (Gemma)0.000
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesMeta-epidemiology (narrow)
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 score0.296
Threshold uncertainty score1.000

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0000.000
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0000.000
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0000.000
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 head0.002
GPT teacher head0.145
Teacher spread0.143 · 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