Evidence map›Paper›PMID 41300778›Full record

ArticleGenes2025

Oxford Nanopore Technologies [ONT] Sequencing: Clinical Validation in Genetically Heterogeneous Disorders.

Mario Urtis, Chiara Paganini, Viviana Vilardo, Antonio Tescari, Samantha Minetto, Claudia Cavaliere, Andrea Pilotto, Carmela Giorgianni, Alessia Cattaneo, Marilena Tagliani and 10 more

Abstract read
In one paragraph

Article in Genes, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

20 authors.

Mario UrtisCentre for Inherited Diseases, Department of Research, Fondazione IRCCS Policlinico San Matteo, 27100 Pavia, Italy.ORCID 0000-0003-3289-9228
Chiara PaganiniCentre for Inherited Diseases, Department of Research, Fondazione IRCCS Policlinico San Matteo, 27100 Pavia, Italy.
Viviana VilardoCentre for Inherited Diseases, Department of Research, Fondazione IRCCS Policlinico San Matteo, 27100 Pavia, Italy.
Antonio TescariCentre for Inherited Diseases, Department of Research, Fondazione IRCCS Policlinico San Matteo, 27100 Pavia, Italy.ORCID 0009-0008-3297-8085
Samantha MinettoCentre for Inherited Diseases, Department of Research, Fondazione IRCCS Policlinico San Matteo, 27100 Pavia, Italy.
Claudia CavaliereCentre for Inherited Diseases, Department of Research, Fondazione IRCCS Policlinico San Matteo, 27100 Pavia, Italy.
Andrea PilottoCentre for Inherited Diseases, Department of Research, Fondazione IRCCS Policlinico San Matteo, 27100 Pavia, Italy.
Carmela GiorgianniCentre for Inherited Diseases, Department of Research, Fondazione IRCCS Policlinico San Matteo, 27100 Pavia, Italy.
Alessia CattaneoCentre for Inherited Diseases, Department of Research, Fondazione IRCCS Policlinico San Matteo, 27100 Pavia, Italy.
Marilena TaglianiCentre for Inherited Diseases, Department of Research, Fondazione IRCCS Policlinico San Matteo, 27100 Pavia, Italy.
Maurizia GrassoCentre for Inherited Diseases, Department of Research, Fondazione IRCCS Policlinico San Matteo, 27100 Pavia, Italy.ORCID 0000-0003-2611-4295
Alexandra SmirnovaCentre for Inherited Diseases, Department of Research, Fondazione IRCCS Policlinico San Matteo, 27100 Pavia, Italy.ORCID 0000-0002-8911-8827
Payam Ebadi4bases Italia srl, 27100 Pavia, Italy.
Valentina Barzon4bases Italia srl, 27100 Pavia, Italy.
Valentina Favalli4bases Italia srl, 27100 Pavia, Italy.
Andrea BimbocciDepartment of Information Engineering, University of Florence, 50139 Florence, Italy.
Marta BaragliDepartment of Information Engineering, University of Florence, 50139 Florence, Italy.
Alberto MagiDepartment of Information Engineering, University of Florence, 50139 Florence, Italy.ORCID 0000-0001-7393-4283
Alessandra RenieriGenetica Medica, Azienda Ospedaliero-Universitaria Senese, 53100 Siena, Italy.ORCID 0000-0002-0846-9220
Eloisa ArbustiniCentre for Inherited Diseases, Department of Research, Fondazione IRCCS Policlinico San Matteo, 27100 Pavia, Italy.ORCID 0000-0003-2948-7994

Funding

Italian Ministry of Health PNC-E3-2022-23683266
6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

Genetic Diseases, InbornHigh-Throughput Nucleotide SequencingNanopore SequencingSequence Analysis, DNADNA Copy Number VariationsGenetic TestingHumanslong-read sequencing (LRS)Oxford Nanopore Technology (ONT)short-read sequencing (SRS)validation

Identifiers

PMID41300778
PMCPMC12652492

What Socratic 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 Socratic graph.