Evidence map›Paper›PMID 37326967›Full record

ArticleBioinformatics (Oxford, England)2023

WarpSTR: determining tandem repeat lengths using raw nanopore signals.

Jozef Sitarčík, Tomáš Vinař, Broňa Brejová, Werner Krampl, Jaroslav Budiš, Ján Radvánszky, Mária Lucká

Abstract read
In one paragraph

Article in Bioinformatics (Oxford, England), 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.

0numbers the graph read from it
0cells of the map it votes in
9citing 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

9 citing papers in PubMed.

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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

7 authors.

Jozef SitarčíkComenius University Science Park, Bratislava 841 04, Slovakia.
Tomáš VinařFaculty of Mathematics, Physics, and Informatics, Comenius University, Bratislava 842 48, Slovakia.ORCID 0000-0003-3898-3447
Broňa BrejováFaculty of Mathematics, Physics, and Informatics, Comenius University, Bratislava 842 48, Slovakia.
Werner KramplComenius University Science Park, Bratislava 841 04, Slovakia.
Jaroslav BudišComenius University Science Park, Bratislava 841 04, Slovakia.
Ján RadvánszkyComenius University Science Park, Bratislava 841 04, Slovakia.
Mária LuckáSlovak Centre of Scientific and Technical Information, Bratislava 811 04, Slovakia.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

motivationShort tandem repeats (STRs) are regions of a genome containing many consecutive copies of the same short motif, possibly with small variations. Analysis of STRs has many clinical uses but is limited by technology mainly due to STRs surpassing the used read length. Nanopore sequencing, as one of long-read sequencing technologies, produces very long reads, thus offering more possibilities to study and analyze STRs. Basecalling of nanopore reads is however particularly unreliable in repeating regions, and therefore direct analysis from raw nanopore data is required.

resultsHere, we present WarpSTR, a novel method for characterizing both simple and complex tandem repeats directly from raw nanopore signals using a finite-state automaton and a search algorithm analogous to dynamic time warping. By applying this approach to determine the lengths of 241 STRs, we demonstrate that our approach decreases the mean absolute error of the STR length estimate compared to basecalling and STRique. AVAILABILITY AND IMPLEMENTATION: WarpSTR is freely available at https://github.com/fmfi-compbio/warpstr.

Indexed as

NanoporesAlgorithmsGenomeHigh-Throughput Nucleotide SequencingMicrosatellite RepeatsSequence Analysis, DNA

Identifiers

PMID37326967
PMCPMC10307940

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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.