Evidence map›Paper›PMID 36307762›Full record

ArticleBMC bioinformatics2022

Frugal alignment-free identification of FLT3-internal tandem duplications with FiLT3r.

Augustin Boudry, Sasha Darmon, Nicolas Duployez, Martin Figeac, Sandrine Geffroy, Maxime Bucci, Karine Celli-Lebras, Matthieu Duchmann, Romane Joudinaud, Laurène Fenwarth and 7 more

Erratum issuedOpen access · goldAbstract read
In one paragraph

Article in BMC bioinformatics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
5.8field-weighted citation impact, top 3% of its field
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

4 citing papers in PubMed, 12 citations in OpenAlex.

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4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

17 authors at 8 institutions in 1 country.

Augustin BoudryHematology Laboratory, Centre de Biologie Pathologie Génétique, CHU Lille, Lille, France.
Sasha DarmonUniv. Lille, CNRS, Centrale Lille, UMR 9189 CRIStAL, F-59000, Lille, France.
Nicolas DuployezHematology Laboratory, Centre de Biologie Pathologie Génétique, CHU Lille, Lille, France.
Martin FigeacUniv. Lille, CNRS, Inserm, CHU Lille, Institut Pasteur de Lille, US 41 - UMS 2014 - PLBS, F-59000, Lille, France.
Sandrine GeffroyHematology Laboratory, Centre de Biologie Pathologie Génétique, CHU Lille, Lille, France.
Maxime BucciHematology Laboratory, Centre de Biologie Pathologie Génétique, CHU Lille, Lille, France.
Karine Celli-LebrasDepartment of Hematology, Saint Louis Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.
Matthieu DuchmannINSERM/CNRS UMR 944/7212, Saint-Louis Research Institute, Paris Diderot University, Paris, France.
Romane JoudinaudHematology Laboratory, Centre de Biologie Pathologie Génétique, CHU Lille, Lille, France.
Laurène FenwarthHematology Laboratory, Centre de Biologie Pathologie Génétique, CHU Lille, Lille, France.
Olivier NibourelHematology Laboratory, Centre de Biologie Pathologie Génétique, CHU Lille, Lille, France.
Laure GoursaudHematology Department, CHU LILLE, Lille, France.
Raphael ItzyksonDepartment of Hematology, Saint Louis Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.
Hervé DombretDepartment of Hematology, Saint Louis Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.
Mathilde HunaultUniv Angers, Université de Nantes, CHU Angers, Inserm, CNRS, CRCI2NA, SFR ICAT, F-49000, Angers, France.
Claude PreudhommeHematology Laboratory, Centre de Biologie Pathologie Génétique, CHU Lille, Lille, France.
Mikaël SalsonUniv. Lille, CNRS, Centrale Lille, UMR 9189 CRIStAL, F-59000, Lille, France. mikael.salson@univ-lille.fr.
Institut de Biologie de Lille · FRUniversité de Lille · FRCentre Hospitalier Universitaire de Lille · FRAssistance Publique – Hôpitaux de Paris · FRDélégation Paris 7 · FRInserm · FRLille’s Cardiology Hospital · FRUniversité Paris Cité · FR

Funding

Institut National Du Cancer PHRC 2007/1911 and PRTK TRANSLA10-060
6 · The paper itself

Abstract

backgroundInternal tandem duplications in the FLT3 gene, termed FLT3-ITDs, are useful molecular markers in acute myeloid leukemia (AML) for patient risk stratification and follow-up. FLT3-ITDs are increasingly screened through high-throughput sequencing (HTS) raising the need for robust and efficient algorithms. We developed a new algorithm, which performs no alignment and uses little resources, to identify and quantify FLT3-ITDs in HTS data.

resultsOur algorithm (FiLT3r) focuses on the k-mers from reads covering FLT3 exons 14 and 15. We show that those k-mers bring enough information to accurately detect, determine the length and quantify FLT3-ITD duplications. We compare the performances of FiLT3r to state-of-the-art alternatives and to fragment analysis, the gold standard method, on a cohort of 185 AML patients sequenced with capture-based HTS. On this dataset FiLT3r is more precise (no false positive nor false negative) than the other software evaluated. We also assess the software on public RNA-Seq data, which confirms the previous results and shows that FiLT3r requires little resources compared to other software.

conclusionFiLT3r is a free software available at https://gitlab.univ-lille.fr/filt3r/filt3r . The repository also contains a Snakefile to reproduce our experiments. We show that FiLT3r detects FLT3-ITDs better than other software while using less memory and time.

Indexed as

Leukemia, Myeloid, AcuteTandem Repeat SequencesBase SequenceExonsfms-Like Tyrosine Kinase 3High-Throughput Nucleotide SequencingHumansMutationFLT3 protein, humanfms-Like Tyrosine Kinase 3Alignment-freeCancerHigh-throughput sequencingSequence analysis

Identifiers

PMID36307762
PMCPMC9617311
OpenAlexW4307711549

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.