Evidence map›Paper›PMID 30631115›Full record

ArticleScientific reports2019

µLAS: Sizing of expanded trinucleotide repeats with femtomolar sensitivity in less than 5 minutes.

Rémi Malbec, Bayan Chami, Lorène Aeschbach, Gustavo A Ruiz Buendía, Marius Socol, Pierre Joseph, Thierry Leïchlé, Evgeniya Trofimenko, Aurélien Bancaud, Vincent Dion

Abstract read
In one paragraph

Article in Scientific reports, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.

0numbers the graph read from it
0cells of the map it votes in
10citing 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

10 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

10 authors.

Rémi MalbecLAAS-CNRS, Université de Toulouse, CNRS, Toulouse, 31031, France.
Bayan ChamiLAAS-CNRS, Université de Toulouse, CNRS, Toulouse, 31031, France.
Lorène AeschbachCenter for Integrative Genomics, Faculty of Biology and Medicine, University of Lausanne, Bâtiment Génopode, Lausanne, 1015, Switzerland.
Gustavo A Ruiz BuendíaCenter for Integrative Genomics, Faculty of Biology and Medicine, University of Lausanne, Bâtiment Génopode, Lausanne, 1015, Switzerland.
Marius SocolLAAS-CNRS, Université de Toulouse, CNRS, Toulouse, 31031, France.
Pierre JosephLAAS-CNRS, Université de Toulouse, CNRS, Toulouse, 31031, France.ORCID http://orcid.org/0000-0002-3142-8996
Thierry LeïchléLAAS-CNRS, Université de Toulouse, CNRS, Toulouse, 31031, France.ORCID http://orcid.org/0000-0003-3183-8976
Evgeniya TrofimenkoCenter for Integrative Genomics, Faculty of Biology and Medicine, University of Lausanne, Bâtiment Génopode, Lausanne, 1015, Switzerland.
Aurélien BancaudLAAS-CNRS, Université de Toulouse, CNRS, Toulouse, 31031, France. abancaud@laas.fr.
Vincent DionCenter for Integrative Genomics, Faculty of Biology and Medicine, University of Lausanne, Bâtiment Génopode, Lausanne, 1015, Switzerland. vincent.dion@unil.ch.ORCID http://orcid.org/0000-0003-4953-7637

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

We present µLAS, a lab-on-chip system that concentrates, separates, and detects DNA fragments in a single module. µLAS speeds up DNA size analysis in minutes using femtomolar amounts of amplified DNA. Here we tested the relevance of µLAS for sizing expanded trinucleotide repeats, which cause over 20 different neurological and neuromuscular disorders. Because the length of trinucleotide repeats correlates with the severity of the diseases, it is crucial to be able to size repeat tract length accurately and efficiently. Expanded trinucleotide repeats are however genetically unstable and difficult to amplify. Thus, the amount of amplified material to work with is often limited, making its analysis labor-intensive. We report the detection of heterogeneous allele lengths in 8 samples from myotonic dystrophy type 1 and Huntington disease patients with up to 750 CAG/CTG repeats in five minutes or less. The high sensitivity of the method allowed us to minimize the number of amplification cycles and thus reduce amplification artefacts without compromising the detection of the expanded allele. These results suggest that µLAS can speed up routine molecular biology applications of repetitive sequences and may improve the molecular diagnostic of expanded repeat disorders.

Indexed as

Trinucleotide Repeat ExpansionDiagnostic Tests, RoutineHumansLab-On-A-Chip DevicesNervous System DiseasesNeuromuscular DiseasesSensitivity and Specificity

Identifiers

PMID30631115
PMCPMC6328573

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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.