Evidence map›Paper›PMID 34441312›Full record

ReviewDiagnostics (Basel, Switzerland)2021

Molecular Autopsy of Sudden Cardiac Death in the Genomics Era.

Vincenzo Castiglione, Martina Modena, Alberto Aimo, Enrica Chiti, Nicoletta Botto, Simona Vittorini, Benedetta Guidi, Giuseppe Vergaro, Andrea Barison, Andrea Rossi and 4 more

Abstract readReview
In one paragraph

Review in Diagnostics (Basel, Switzerland), 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.

0numbers the graph read from it
0cells of the map it votes in
17citing 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

17 citing papers in PubMed.

  1. Review
  2. Review
  3. Review
  4. Brugada syndrome in the forensic field: what do we know to date?Frontiers in cardiovascular medicine · 2025
    Review
  5. Article
  6. Article
  7. Review
  8. Molecular autopsy for sudden death in Japan.Journal of toxicologic pathology · 2024
    Review
  9. Review
  10. Article
  11. Article
  12. Observational
  13. Review
  14. Review
  15. Review
  16. Article
  17. 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

14 authors.

Vincenzo CastiglioneInstitute of Life Sciences, Scuola Superiore Sant'Anna, 56124 Pisa, Italy.ORCID 0000-0002-9285-2328
Martina ModenaInstitute of Life Sciences, Scuola Superiore Sant'Anna, 56124 Pisa, Italy.ORCID 0000-0003-0555-542X
Alberto AimoInstitute of Life Sciences, Scuola Superiore Sant'Anna, 56124 Pisa, Italy.
Enrica ChitiLegal Medicine Institute, University of Pisa, 56126 Pisa, Italy.
Nicoletta BottoFondazione Toscana Gabriele Monasterio, 56124 Pisa, Italy.
Simona VittoriniFondazione Toscana Gabriele Monasterio, 56124 Pisa, Italy.
Benedetta GuidiLegal Medicine, USL Toscana Nord Ovest, 55100 Lucca, Italy.
Giuseppe VergaroInstitute of Life Sciences, Scuola Superiore Sant'Anna, 56124 Pisa, Italy.
Andrea BarisonFondazione Toscana Gabriele Monasterio, 56124 Pisa, Italy.
Andrea RossiFondazione Toscana Gabriele Monasterio, 56124 Pisa, Italy.
Claudio PassinoInstitute of Life Sciences, Scuola Superiore Sant'Anna, 56124 Pisa, Italy.
Alberto GiannoniInstitute of Life Sciences, Scuola Superiore Sant'Anna, 56124 Pisa, Italy.
Marco Di PaoloLegal Medicine Institute, University of Pisa, 56126 Pisa, Italy.
Michele EmdinInstitute of Life Sciences, Scuola Superiore Sant'Anna, 56124 Pisa, Italy.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Molecular autopsy is the process of investigating sudden death through genetic analysis. It is particularly useful in cases where traditional autopsy is negative or only shows non-diagnostic features, i.e., in sudden unexplained deaths (SUDs), which are often due to an underlying inherited arrhythmogenic cardiac disease. The final goal of molecular autopsy in SUD cases is to aid medico-legal inquiries and to guide cascade genetic screening of the victim's relatives. Early attempts of molecular autopsy relied on Sanger sequencing, which, despite being accurate and easy to use, has a low throughput and can only be employed to analyse a small panel of genes. Conversely, the recent adoption of next-generation sequencing (NGS) technologies has allowed exome/genome wide examination, providing an increase in detection of pathogenic variants and the discovery of newer genotype-phenotype associations. NGS has nonetheless brought new challenges to molecular autopsy, especially regarding the clinical interpretation of the large number of variants of unknown significance detected in each individual.

Indexed as

geneticsmolecular autopsynext-generation sequencingsudden cardiac death

Identifiers

PMID34441312
PMCPMC8394514

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.