Evidence map›Paper›PMID 32908482›Full record

ArticleNeural plasticity2020

A Customized Next-Generation Sequencing-Based Panel to Identify Novel Genetic Variants in Dementing Disorders: A Pilot Study.

Giuseppe Lanza, Francesco Calì, Mirella Vinci, Filomena Irene Ilaria Cosentino, Mariangela Tripodi, Rosario Sebastiano Spada, Mariagiovanna Cantone, Rita Bella, Teresa Mattina, Raffaele Ferri

Open access · goldAbstract read
In one paragraph

Article in Neural plasticity, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed
0.6field-weighted citation impact, top 32% 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

8 citing papers in PubMed, 9 citations in OpenAlex.

  1. Article
  2. Molecular Mechanisms of Dementia 2.0.International journal of molecular sciences · 2024
    Article
  3. Article
  4. Molecular Mechanisms of Dementia.International journal of molecular sciences · 2023
    Article
  5. Article
  6. Observational
  7. The Utility of Next-Generation Sequencing for Identifying the Genetic Basis of Dementia.International journal of environmental research and public health · 2021
    Article
  8. Article
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 at 2 institutions in 1 country.

Giuseppe LanzaDepartment of Surgery and Medical-Surgical Specialties, University of Catania, Catania, Italy.ORCID 0000-0002-5659-662X
Francesco CalìOasi Research Institute-IRCCS, Troina, Italy.
Mirella VinciOasi Research Institute-IRCCS, Troina, Italy.
Filomena Irene Ilaria CosentinoOasi Research Institute-IRCCS, Troina, Italy.
Mariangela TripodiOasi Research Institute-IRCCS, Troina, Italy.
Rosario Sebastiano SpadaOasi Research Institute-IRCCS, Troina, Italy.
Mariagiovanna CantoneDepartment of Neurology, Sant'Elia Hospital, ASP Caltanissetta, Caltanissetta, Italy.ORCID 0000-0002-9072-4971
Rita BellaDepartment of Medical and Surgical Sciences and Advanced Technologies, University of Catania, Catania, Italy.
Teresa MattinaDepartment of Biomedical and Biotechnological Sciences, University of Catania, Catania, Italy.
Raffaele FerriOasi Research Institute-IRCCS, Troina, Italy.
Oasi Maria SS · ITUniversity of Catania · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Purpose: The advancements in the next-generation sequencing (NGS) techniques have allowed for rapid, efficient, and cost-time-effective genetic variant detection. However, in both clinical practice and research setting, sequencing is still often limited to the use of gene panels clinically targeted on the genes underlying the disease of interest. Methods: We performed a neurogenetic study through an Results: We found variants of the Conclusions: Notwithstanding the preliminary value of this study, some rare genetic variants with a probable disease association were detected. Although future application of NGS-based sensors and further replication of these experimental data are needed, this approach seems to offer promising translational perspectives in the diagnosis and management of a wide range of neurodegenerative disorders.

Indexed as

Genetic VariationAdultAgedAged, 80 and overAmyloid beta-Protein PrecursorDementiaFemaleHigh-Throughput Nucleotide SequencingHumansMaleMembrane GlycoproteinsPilot ProjectsReceptors, ImmunologicAmyloid beta-Protein PrecursorAPP protein, humanMembrane GlycoproteinsReceptors, ImmunologicTREM2 protein, human

Identifiers

PMID32908482
PMCPMC7450320
OpenAlexW3076641807

What OpenQuestion holds

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LicenceCC BY
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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.