Evidence map›Paper›PMID 37435434›Full record

ReviewNeurology. Genetics2022

Integrating Genetic Structural Variations and Whole-Genome Sequencing Into Clinical Neurology.

Xin Lin, Yuanhao Yang, Phillip E Melton, Vikrant Singh, Steve Simpson-Yap, Kathryn P Burdon, Bruce V Taylor, Yuan Zhou

Open access · goldAbstract readReview
PubMed Full text at PMC Publisher
In one paragraph

Review in Neurology. Genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.

0numbers the graph read from it
0cells of the map it votes in
9citing papers in PubMed
2.4field-weighted citation impact, top 11% 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

9 citing papers in PubMed, 14 citations in OpenAlex.

  1. Review
  2. Review
  3. Review
  4. Review
  5. Review
  6. Review
  7. Genetic Testing of Movements Disorders: A Review of Clinical Utility.Tremor and other hyperkinetic movements (New York, N.Y.) · 2024
    Review
  8. Article
  9. 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

8 authors at 1 institution in 1 country.

Xin LinFrom the Menzies Institute for Medical Research (X.L., P.E.M., V.S., S.S.-Y., K.P.B., B.V.T., Y.Z.), University of Tasmania, Hobart, Australia; Mater Research Institute (Y.Y.), Translational Research Institute, Brisbane, QLD, Australia; Institute for Molecular Bioscience (Y.Y.), The University of Queensland, Brisbane, QLD, Australia; School of Population and Global Health (P.E.M.), University of Western Australia, Nedlands, WA; and Neuroepidemiology Unit (S.S.-Y.), Melbourne School of Population and Global Health, The University of Melbourne, Parkville, VIC, Australia.ORCID https://orcid.org/0000-0002-1563-8168
Yuanhao YangFrom the Menzies Institute for Medical Research (X.L., P.E.M., V.S., S.S.-Y., K.P.B., B.V.T., Y.Z.), University of Tasmania, Hobart, Australia; Mater Research Institute (Y.Y.), Translational Research Institute, Brisbane, QLD, Australia; Institute for Molecular Bioscience (Y.Y.), The University of Queensland, Brisbane, QLD, Australia; School of Population and Global Health (P.E.M.), University of Western Australia, Nedlands, WA; and Neuroepidemiology Unit (S.S.-Y.), Melbourne School of Population and Global Health, The University of Melbourne, Parkville, VIC, Australia.
Phillip E MeltonFrom the Menzies Institute for Medical Research (X.L., P.E.M., V.S., S.S.-Y., K.P.B., B.V.T., Y.Z.), University of Tasmania, Hobart, Australia; Mater Research Institute (Y.Y.), Translational Research Institute, Brisbane, QLD, Australia; Institute for Molecular Bioscience (Y.Y.), The University of Queensland, Brisbane, QLD, Australia; School of Population and Global Health (P.E.M.), University of Western Australia, Nedlands, WA; and Neuroepidemiology Unit (S.S.-Y.), Melbourne School of Population and Global Health, The University of Melbourne, Parkville, VIC, Australia.
Vikrant SinghFrom the Menzies Institute for Medical Research (X.L., P.E.M., V.S., S.S.-Y., K.P.B., B.V.T., Y.Z.), University of Tasmania, Hobart, Australia; Mater Research Institute (Y.Y.), Translational Research Institute, Brisbane, QLD, Australia; Institute for Molecular Bioscience (Y.Y.), The University of Queensland, Brisbane, QLD, Australia; School of Population and Global Health (P.E.M.), University of Western Australia, Nedlands, WA; and Neuroepidemiology Unit (S.S.-Y.), Melbourne School of Population and Global Health, The University of Melbourne, Parkville, VIC, Australia.
Steve Simpson-YapFrom the Menzies Institute for Medical Research (X.L., P.E.M., V.S., S.S.-Y., K.P.B., B.V.T., Y.Z.), University of Tasmania, Hobart, Australia; Mater Research Institute (Y.Y.), Translational Research Institute, Brisbane, QLD, Australia; Institute for Molecular Bioscience (Y.Y.), The University of Queensland, Brisbane, QLD, Australia; School of Population and Global Health (P.E.M.), University of Western Australia, Nedlands, WA; and Neuroepidemiology Unit (S.S.-Y.), Melbourne School of Population and Global Health, The University of Melbourne, Parkville, VIC, Australia.ORCID https://orcid.org/0000-0001-6521-3056
Kathryn P BurdonFrom the Menzies Institute for Medical Research (X.L., P.E.M., V.S., S.S.-Y., K.P.B., B.V.T., Y.Z.), University of Tasmania, Hobart, Australia; Mater Research Institute (Y.Y.), Translational Research Institute, Brisbane, QLD, Australia; Institute for Molecular Bioscience (Y.Y.), The University of Queensland, Brisbane, QLD, Australia; School of Population and Global Health (P.E.M.), University of Western Australia, Nedlands, WA; and Neuroepidemiology Unit (S.S.-Y.), Melbourne School of Population and Global Health, The University of Melbourne, Parkville, VIC, Australia.
Bruce V TaylorFrom the Menzies Institute for Medical Research (X.L., P.E.M., V.S., S.S.-Y., K.P.B., B.V.T., Y.Z.), University of Tasmania, Hobart, Australia; Mater Research Institute (Y.Y.), Translational Research Institute, Brisbane, QLD, Australia; Institute for Molecular Bioscience (Y.Y.), The University of Queensland, Brisbane, QLD, Australia; School of Population and Global Health (P.E.M.), University of Western Australia, Nedlands, WA; and Neuroepidemiology Unit (S.S.-Y.), Melbourne School of Population and Global Health, The University of Melbourne, Parkville, VIC, Australia.ORCID https://orcid.org/0000-0003-2807-0070
Yuan ZhouFrom the Menzies Institute for Medical Research (X.L., P.E.M., V.S., S.S.-Y., K.P.B., B.V.T., Y.Z.), University of Tasmania, Hobart, Australia; Mater Research Institute (Y.Y.), Translational Research Institute, Brisbane, QLD, Australia; Institute for Molecular Bioscience (Y.Y.), The University of Queensland, Brisbane, QLD, Australia; School of Population and Global Health (P.E.M.), University of Western Australia, Nedlands, WA; and Neuroepidemiology Unit (S.S.-Y.), Melbourne School of Population and Global Health, The University of Melbourne, Parkville, VIC, Australia.ORCID https://orcid.org/0000-0003-1962-2574
Translational Research Institute · AU

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Advances in genome sequencing technologies have unlocked new possibilities in identifying disease-associated and causative genetic markers, which may in turn enhance disease diagnosis and improve prognostication and management strategies. With the capability of examining genetic variations ranging from single-nucleotide mutations to large structural variants, whole-genome sequencing (WGS) is an increasingly adopted approach to dissect the complex genetic architecture of neurologic diseases. There is emerging evidence for different structural variants and their roles in major neurologic and neurodevelopmental diseases. This review first describes different structural variants and their implicated roles in major neurologic and neurodevelopmental diseases, and then discusses the clinical relevance of WGS applications in neurology. Notably, WGS-based detection of structural variants has shown promising potential in enhancing diagnostic power of genetic tests in clinical settings. Ongoing WGS-based research in structural variations and quantifying mutational constraints can also yield clinical benefits by improving variant interpretation and disease diagnosis, while supporting biomarker discovery and therapeutic development. As a result, wider integration of WGS technologies into health care will likely increase diagnostic yields in difficult-to-diagnose conditions and define potential therapeutic targets or intervention points for genome-editing strategies.

Identifiers

PMID37435434
PMCPMC10331588
OpenAlexW4281964896

What OpenQuestion 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 OpenQuestion graph.