Evidence map›Paper›PMID 34646309›Full record

ArticleFrontiers in genetics2021

Characterization of

Valentina Grosso, Luca Marcolungo, Simone Maestri, Massimiliano Alfano, Denise Lavezzari, Barbara Iadarola, Alessandro Salviati, Barbara Mariotti, Annalisa Botta, Maria Rosaria D'Apice and 3 more

Open access · goldAbstract read
In one paragraph

Article in Frontiers in genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.

0numbers the graph read from it
0cells of the map it votes in
11citing papers in PubMed
2.8field-weighted citation impact, top 9% 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

11 citing papers in PubMed, 19 citations in OpenAlex.

  1. Review
  2. Review
  3. Review
  4. Review
  5. Article
  6. Article
  7. Article
  8. Article
  9. Narrative Review: Update on the Molecular Diagnosis of Fragile X Syndrome.International journal of molecular sciences · 2023
    Review
  10. Article
  11. 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

13 authors at 3 institutions in 2 countries.

Valentina GrossoDepartment of Biotechnology, University of Verona, Verona, Italy.
Luca MarcolungoDepartment of Biotechnology, University of Verona, Verona, Italy.
Simone MaestriDepartment of Biotechnology, University of Verona, Verona, Italy.
Massimiliano AlfanoDepartment of Biotechnology, University of Verona, Verona, Italy.
Denise LavezzariDepartment of Biotechnology, University of Verona, Verona, Italy.
Barbara IadarolaDepartment of Biotechnology, University of Verona, Verona, Italy.
Alessandro SalviatiDepartment of Biotechnology, University of Verona, Verona, Italy.
Barbara MariottiDepartment of Medicine, Section of General Pathology, University of Verona, Verona, Italy.
Annalisa BottaDepartment of Biomedicine and Prevention, Medical Genetics Section, University of Rome "Tor Vergata", Rome, Italy.
Maria Rosaria D'ApiceLaboratory of Medical Genetics, Tor Vergata Hospital, Rome, Italy.
Giuseppe NovelliDepartment of Biomedicine and Prevention, Medical Genetics Section, University of Rome "Tor Vergata", Rome, Italy.
Massimo DelledonneDepartment of Biotechnology, University of Verona, Verona, Italy.
Marzia RossatoDepartment of Biotechnology, University of Verona, Verona, Italy.
University of Verona · ITUniversity of Nevada, Reno · USUniversity of Rome Tor Vergata · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Traditional methods for the analysis of repeat expansions, which underlie genetic disorders, such as fragile X syndrome (FXS), lack single-nucleotide resolution in repeat analysis and the ability to characterize causative variants outside the repeat array. These drawbacks can be overcome by long-read and short-read sequencing, respectively. However, the routine application of next-generation sequencing in the clinic requires target enrichment, and none of the available methods allows parallel analysis of long-DNA fragments using both sequencing technologies. In this study, we investigated the use of indirect sequence capture (Xdrop technology) coupled to Nanopore and Illumina sequencing to characterize

Indexed as

FMR1indirect sequence capturelong fragment enrichmentrepeat expansionsingle nucleotide variants

Identifiers

PMID34646309
PMCPMC8504923
OpenAlexW3203102530

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.