Evidence map›Paper›PMID 25123898›Full record

ArticleBioinformatics (Oxford, England)2014

MindTheGap: integrated detection and assembly of short and long insertions.

Guillaume Rizk, Anaïs Gouin, Rayan Chikhi, Claire Lemaitre

Abstract read
In one paragraph

Article in Bioinformatics (Oxford, England), 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.

0numbers the graph read from it
0cells of the map it votes in
28citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

28 citing papers in PubMed.

  1. Article
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  17. Identification and manipulation ofBiotechnology for biofuels · 2019
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

4 authors.

Guillaume RizkInria/IRISA GenScale, Campus de Beaulieu, 35042 Rennes cedex, France, INRA, UMR 1349 Institut de Génétique, Environnement et Protection des Plantes, Domaine de la Motte - 35653 Le Rheu Cedex, France and Department of Computer Science and Engineering, Pennsylvania State University, PA, USA.
Anaïs GouinInria/IRISA GenScale, Campus de Beaulieu, 35042 Rennes cedex, France, INRA, UMR 1349 Institut de Génétique, Environnement et Protection des Plantes, Domaine de la Motte - 35653 Le Rheu Cedex, France and Department of Computer Science and Engineering, Pennsylvania State University, PA, USA.
Rayan ChikhiInria/IRISA GenScale, Campus de Beaulieu, 35042 Rennes cedex, France, INRA, UMR 1349 Institut de Génétique, Environnement et Protection des Plantes, Domaine de la Motte - 35653 Le Rheu Cedex, France and Department of Computer Science and Engineering, Pennsylvania State University, PA, USA.
Claire LemaitreInria/IRISA GenScale, Campus de Beaulieu, 35042 Rennes cedex, France, INRA, UMR 1349 Institut de Génétique, Environnement et Protection des Plantes, Domaine de la Motte - 35653 Le Rheu Cedex, France and Department of Computer Science and Engineering, Pennsylvania State University, PA, USA.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

motivationInsertions play an important role in genome evolution. However, such variants are difficult to detect from short-read sequencing data, especially when they exceed the paired-end insert size. Many approaches have been proposed to call short insertion variants based on paired-end mapping. However, there remains a lack of practical methods to detect and assemble long variants.

resultsWe propose here an original method, called MindTheGap, for the integrated detection and assembly of insertion variants from re-sequencing data. Importantly, it is designed to call insertions of any size, whether they are novel or duplicated, homozygous or heterozygous in the donor genome. MindTheGap uses an efficient k-mer-based method to detect insertion sites in a reference genome, and subsequently assemble them from the donor reads. MindTheGap showed high recall and precision on simulated datasets of various genome complexities. When applied to real Caenorhabditis elegans and human NA12878 datasets, MindTheGap detected and correctly assembled insertions >1 kb, using at most 14 GB of memory.

Indexed as

Mutagenesis, InsertionalAnimalsCaenorhabditis elegansGenomeHumansSequence Analysis, DNASoftware

Identifiers

PMID25123898
PMCPMC4253827

What OpenQuestion holds

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LicenceCC BY-NC
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.