Evidence map›Paper›PMID 41531665›Full record

ArticleHemaSphere2026

Application of machine learning in the diagnostic work-up of telomere biology disorders.

Erika Massaccesi, Luca Arcuri, Giacomo Cavalca, Fabian Beier, Lucia Vankann, Michela Lupia, Davide Cangelosi, Alice Grossi, Marina Lanciotti, Filomena Pierri and 19 more

Abstract read
In one paragraph

Article in HemaSphere, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. Review
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

29 authors.

Erika MassaccesiHematology Unit IRCCS Istituto Giannina Gaslini Genoa Italy.
Luca ArcuriHematology Unit IRCCS Istituto Giannina Gaslini Genoa Italy.
Giacomo CavalcaClinical Bioinformatics Unit IRCCS Istituto Giannina Gaslini Genoa Italy.
Fabian BeierDepartment of Hematology, Oncology, Hemostaseology, Stem Cell Transplantation, Medical Faculty, Center for Integrated Oncology (CIO) RWTH Aachen University Aachen Germany.
Lucia VankannDepartment of Hematology, Oncology, Hemostaseology, Stem Cell Transplantation, Medical Faculty, Center for Integrated Oncology (CIO) RWTH Aachen University Aachen Germany.
Michela LupiaHematology Unit IRCCS Istituto Giannina Gaslini Genoa Italy.
Davide CangelosiClinical Bioinformatics Unit IRCCS Istituto Giannina Gaslini Genoa Italy.
Alice GrossiLaboratory of Genetics and Genomics of Rare Diseases IRCCS Istituto Giannina Gaslini Genoa Italy.
Marina LanciottiHematology Unit IRCCS Istituto Giannina Gaslini Genoa Italy.
Filomena PierriHematopoietic Stem Cell Transplantation Unit IRCCS Istituto Giannina Gaslini Genoa Italy.
Francesca FioreddaHematology Unit IRCCS Istituto Giannina Gaslini Genoa Italy.ORCID https://orcid.org/0000-0002-7096-4580
Maurizio MianoHematology Unit IRCCS Istituto Giannina Gaslini Genoa Italy.ORCID https://orcid.org/0000-0002-9816-1704
Gianluca Dell'OrsoHematology Unit IRCCS Istituto Giannina Gaslini Genoa Italy.
Maria Carla GiarratanaHematology Unit IRCCS Istituto Giannina Gaslini Genoa Italy.
Daniela GuardoHematology Unit IRCCS Istituto Giannina Gaslini Genoa Italy.
Francesca BagnascoBiostatistics Unit, Scientific Directorate IRCCS Istituto Giannina Gaslini Genoa Italy.
Sara PestarinoHematopoietic Stem Cell Transplantation Unit IRCCS Istituto Giannina Gaslini Genoa Italy.
Maria BinelliDepartment of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health University of Genoa Genoa Italy.
Mareike TomettenDepartment of Hematology, Oncology, Hemostaseology, Stem Cell Transplantation, Medical Faculty, Center for Integrated Oncology (CIO) RWTH Aachen University Aachen Germany.
Robert MeyerDepartment of Hematology, Oncology, Hemostaseology, Stem Cell Transplantation, Medical Faculty, Center for Integrated Oncology (CIO) RWTH Aachen University Aachen Germany.ORCID https://orcid.org/0000-0002-5693-2216
Fanny FrenzelDepartment of Hematology, Oncology, Hemostaseology, Stem Cell Transplantation, Medical Faculty, Center for Integrated Oncology (CIO) RWTH Aachen University Aachen Germany.
Domenico CovielloLaboratory of Human Genetics IRCCS Istituto Giannina Gaslini Genoa Italy.
Eugenia MarianiHematology Unit IRCCS Istituto Giannina Gaslini Genoa Italy.
Elena PalmisaniHematology Unit IRCCS Istituto Giannina Gaslini Genoa Italy.
Saba KainatDepartment of Computer Science and Engineering University of Bologna Bologna Italy.
Isabella CeccheriniLaboratory of Genetics and Genomics of Rare Diseases IRCCS Istituto Giannina Gaslini Genoa Italy.
Paolo UvaClinical Bioinformatics Unit IRCCS Istituto Giannina Gaslini Genoa Italy.
Tim Henrik BrümmendorfDepartment of Hematology, Oncology, Hemostaseology, Stem Cell Transplantation, Medical Faculty, Center for Integrated Oncology (CIO) RWTH Aachen University Aachen Germany.
Carlo DufourHematology Unit IRCCS Istituto Giannina Gaslini Genoa Italy.ORCID https://orcid.org/0000-0002-5980-5474

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

We applied supervised and unsupervised machine learning (ML) analyses to a cohort of 140 patients referred to the Hematology Unit of the G. Gaslini Institute from 1989 to 2023 for persistent cytopenia and/or features suggestive of telomere biology disorders (TBDs). Patients were labeled as "TBD" (

Identifiers

PMID41531665
PMCPMC12793044

What Socratic holds

Textmetadata
LicenceCC BY-NC-ND
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.