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10x genomics chromium targetted molecule assembly and genome scaffolding

2017· article· en· W2755930981 on OpenAlexaff
Justin Chu, Lauren Coombe, Sarah Yeo, Benjamin P. Vandervalk, René L. Warren, Shaun D. Jackman, Erdi Küçük, İnanç Birol

Bibliographic record

VenueFaculty of 1000 Research Ltd · 2017
Typearticle
Languageen
FieldComputer Science
TopicComputational Drug Discovery Methods
Canadian institutionsCanada's Michael Smith Genome Sciences Centre
Fundersnot available
KeywordsOpen peer reviewPlant biologyGenomeGenomicsBiologyComputational biologyPhysiologyGeneticsGeneBotany

Abstract

fetched live from OpenAlex

10X Genomic Chromium sequencing provides long range information between Illumina sequence read pairs. Each read pair is linked to a group of reads by a barcode index within a fragment size typically between 10-100 kbp. This powerful technology has been used in phasing haplotypes, but is difficult to use for assembly and scaffolding due to the low relative coverage of each index and the absence of positional information (ie. read order and position within each fragment). Unlike Illumina TruSeq technology, the linked read pairs are below 1x coverage for each index so they cannot be used to generate synthetic long reads, which would otherwise greatly simplify assembly. Using the Chromium-indexed reads as baits one can use complementary data to fill in gaps, to reconstruct entire fragments. Our method uses previously tagged reads as additional bait sequences to progressively fill-in the missing segments of a fragment of interest, to allow localized assembly. These reconstructed fragments could not only lead to better assemblies downstream, but also help increase the quality of sequence abundance counts on transcriptomic or metagenomic studies, because longer sequences have a higher specificity. In addition to fragment assembly, we have successfully used Chromium information to scaffold existing assemblies. We have developed ARCS (Assembly Roundup by Chromium Scaffolding), an algorithm that uses indexed fragments shared between assembled contigs to order and orient contigs. We show the contiguity of an ABySS human genome assembly can be increased over six-fold, from an N50 of 50 kbp to 303 kbp, using only 25x coverage Chromium data.This method is complementary to upstream assembly methods, as it can scaffold sequences that have systemic missing read coverage due to biases introduced by Illumina sequencing.

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)0.001
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Simulation or modeling · Consensus signal: none
GenreCandidate signal: Empirical · Consensus signal: none
Teacher disagreement score0.024
Threshold uncertainty score0.082

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0010.001
Meta-epidemiology (narrow)0.0010.001
Meta-epidemiology (broad)0.0010.001
Bibliometrics0.0010.001
Science and technology studies0.0010.000
Scholarly communication0.0010.001
Open science0.0010.001
Research integrity0.0010.002
Insufficient payload (model declined to judge)0.0240.008

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 head0.072
GPT teacher head0.401
Teacher spread0.329 · 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 designSimulation or modeling
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".

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Citations0
Published2017
Admission routes1
Has abstractno

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