Evidence map›Paper›PMID 33972362›Full record

ArticlePractical neurology2021

Whole-genome sequencing.

Huw R Morris, Henry Houlden, James Polke

Open access · hybridAbstract read
In one paragraph

Article in Practical neurology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
2.3field-weighted citation impact, top 12% 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

4 citing papers in PubMed, 17 citations in OpenAlex.

  1. Article
  2. Repeat expansion disorders.Practical neurology · 2025
    Review
  3. Review
  4. 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

3 authors at 2 institutions in 1 country.

Huw R MorrisDepartment of Clinical and Movement Neuroscience, UCL Queen Square Institute of Neurology, London, UK h.morris@ucl.ac.uk.ORCID http://orcid.org/0000-0002-5473-3774
Henry HouldenDepartment of Molecular Neuroscience, UCL Queen Square Institute of Neurology, London, UK.ORCID http://orcid.org/0000-0002-2866-7777
James PolkeNeurogenetics, University College London Hospitals NHS Foundation Trust National Hospital for Neurology and Neurosurgery, London, UK.
National Hospital for Neurology and Neurosurgery · GBUniversity College London Hospitals NHS Foundation Trust · GB

Funding

Medical Research Council G0700943Medical Research Council G1100643Parkinson's UK K-1501Wellcome Trust
6 · The paper itself

Abstract

The costs of whole-genome sequencing have rapidly decreased, and it is being increasingly deployed in large-scale clinical research projects and introduced into routine clinical care. This will lead to rapid diagnoses for patients with genetic disease but also introduces uncertainty because of the diversity of human genomes and the potential difficulties in annotating new genetic variants for individual patients and families. Here we outline the steps in organising whole-genome sequencing for patients in the neurology clinic and emphasise that close liaison between the clinician and the laboratory is essential.

Indexed as

neurogenetics

Identifiers

PMID33972362
PMCPMC8543191
OpenAlexW3161508610

What OpenQuestion 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 OpenQuestion graph.