Evidence map›Paper›PMID 40208247›Full record

ReviewJournal of neuromuscular diseases2025

The continued promise of genomic technologies and software in neurogenetics.

Isaac R L Xu, Matt C Danzi, Jacquelyn Raposo, Stephan Züchner

Abstract readReview
In one paragraph

Review in Journal of neuromuscular diseases, 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

4 authors.

Isaac R L XuDr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.
Matt C DanziDr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.
Jacquelyn RaposoDr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.
Stephan ZüchnerDr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The continued evolution of genomic technologies over the past few decades has revolutionized the field of neurogenetics, offering profound insights into the genetic underpinnings of neurological disorders. Identification of causal genes for numerous monogenic neurological conditions has informed key aspects of disease mechanisms and facilitated research into critical proteins and molecular pathways, laying the groundwork for therapeutic interventions. However, the question remains: has this transformative trend reached its zenith? In this review, we suggest that despite significant strides in genome sequencing and advanced computational analyses, there is still ample room for methodological refinement. We anticipate further major genetic breakthroughs corresponding with the increased use of long-read genomes, variant calling software, AI tools, and data aggregation databases. Genetic progress has historically been driven by technological advancements from the commercial sector, which are developed in response to academic research needs, creating a continuous cycle of innovation and discovery. This review explores the potential of genomic technologies to address the challenges of neurogenetic disorders. By outlining both established and modern resources, we aim to emphasize the importance of genetic technologies as we enter an era poised for discoveries.

Indexed as

GenomicsNervous System DiseasesSoftwareHumanslong-read genomesneurogeneticsstructural variationtandem repeatstechnology

Identifiers

PMID40208247
PMCPMC13142840

What OpenQuestion holds

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LicenceCC BY-NC
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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.