Evidence map›Paper›PMID 34389649›Full record

ReviewNeurology2021

Deciphering Neurodegenerative Diseases Using Long-Read Sequencing.

Yun Su, Liyuan Fan, Changhe Shi, Tai Wang, Huimin Zheng, Haiyang Luo, Shuo Zhang, Zhengwei Hu, Yu Fan, Yali Dong and 3 more

Open access · hybridAbstract readReview
In one paragraph

Review in Neurology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.

0numbers the graph read from it
0cells of the map it votes in
18citing papers in PubMed
1.9field-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

18 citing papers in PubMed, 24 citations in OpenAlex.

  1. Article
  2. Review
  3. Review
  4. Article
  5. Exploration of Neurodegenerative Diseases Using Long-Read Sequencing and Optical Genome Mapping Technologies.Movement disorders : official journal of the Movement Disorder Society · 2025
    Review
  6. Review
  7. Article
  8. Article
  9. Review
  10. Review
  11. Review
  12. Article
  13. Review
  14. Genetic Testing of Movements Disorders: A Review of Clinical Utility.Tremor and other hyperkinetic movements (New York, N.Y.) · 2024
    Review
  15. Article
  16. Long-read sequencing improves diagnostic rate in neuromuscular disorders.Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology · 2023
    Review
  17. Review
  18. 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

13 authors at 2 institutions in 1 country.

Yun SuFrom the Department of Neurology (Y.S., L.F., C.S., T.W., H.Z., H.L., S.Z., Z.H., Y.F., Y.D., J.Y., C.M., Y.X.), The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Henan, P. R. China; The Academy of Medical Sciences of Zhengzhou University (Y.S., L.F., C.S., T.E., H.Z., H.L., S.Z., Z.H., Y.F., Y.D., C.M.), Zhengzhou University,Henan, P. R. China; Henan Key Laboratory of Cerebrovascular Diseases (Y.S., L.F., C.S., H.Z., H.L., S.Z., Z.H., Y.F., Y.D., J.Y., C.M., Y.X.), The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Henan, P. R. China; Sino-British Research Centre for Molecular Oncology (C.S., C.M.), National Centre for International Research in Cell and Gene Therapy, School of Basic Medical Sciences, Academy of Medical Sciences, Zhengzhou University, Henan, P. R. China; and Institute of Neuroscience (J.W., Y.X.), Zhengzhou University, Henan, P. R. China.
Liyuan FanFrom the Department of Neurology (Y.S., L.F., C.S., T.W., H.Z., H.L., S.Z., Z.H., Y.F., Y.D., J.Y., C.M., Y.X.), The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Henan, P. R. China; The Academy of Medical Sciences of Zhengzhou University (Y.S., L.F., C.S., T.E., H.Z., H.L., S.Z., Z.H., Y.F., Y.D., C.M.), Zhengzhou University,Henan, P. R. China; Henan Key Laboratory of Cerebrovascular Diseases (Y.S., L.F., C.S., H.Z., H.L., S.Z., Z.H., Y.F., Y.D., J.Y., C.M., Y.X.), The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Henan, P. R. China; Sino-British Research Centre for Molecular Oncology (C.S., C.M.), National Centre for International Research in Cell and Gene Therapy, School of Basic Medical Sciences, Academy of Medical Sciences, Zhengzhou University, Henan, P. R. China; and Institute of Neuroscience (J.W., Y.X.), Zhengzhou University, Henan, P. R. China.
Changhe ShiFrom the Department of Neurology (Y.S., L.F., C.S., T.W., H.Z., H.L., S.Z., Z.H., Y.F., Y.D., J.Y., C.M., Y.X.), The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Henan, P. R. China; The Academy of Medical Sciences of Zhengzhou University (Y.S., L.F., C.S., T.E., H.Z., H.L., S.Z., Z.H., Y.F., Y.D., C.M.), Zhengzhou University,Henan, P. R. China; Henan Key Laboratory of Cerebrovascular Diseases (Y.S., L.F., C.S., H.Z., H.L., S.Z., Z.H., Y.F., Y.D., J.Y., C.M., Y.X.), The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Henan, P. R. China; Sino-British Research Centre for Molecular Oncology (C.S., C.M.), National Centre for International Research in Cell and Gene Therapy, School of Basic Medical Sciences, Academy of Medical Sciences, Zhengzhou University, Henan, P. R. China; and Institute of Neuroscience (J.W., Y.X.), Zhengzhou University, Henan, P. R. China.
Tai WangFrom the Department of Neurology (Y.S., L.F., C.S., T.W., H.Z., H.L., S.Z., Z.H., Y.F., Y.D., J.Y., C.M., Y.X.), The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Henan, P. R. China; The Academy of Medical Sciences of Zhengzhou University (Y.S., L.F., C.S., T.E., H.Z., H.L., S.Z., Z.H., Y.F., Y.D., C.M.), Zhengzhou University,Henan, P. R. China; Henan Key Laboratory of Cerebrovascular Diseases (Y.S., L.F., C.S., H.Z., H.L., S.Z., Z.H., Y.F., Y.D., J.Y., C.M., Y.X.), The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Henan, P. R. China; Sino-British Research Centre for Molecular Oncology (C.S., C.M.), National Centre for International Research in Cell and Gene Therapy, School of Basic Medical Sciences, Academy of Medical Sciences, Zhengzhou University, Henan, P. R. China; and Institute of Neuroscience (J.W., Y.X.), Zhengzhou University, Henan, P. R. China.
Huimin ZhengFrom the Department of Neurology (Y.S., L.F., C.S., T.W., H.Z., H.L., S.Z., Z.H., Y.F., Y.D., J.Y., C.M., Y.X.), The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Henan, P. R. China; The Academy of Medical Sciences of Zhengzhou University (Y.S., L.F., C.S., T.E., H.Z., H.L., S.Z., Z.H., Y.F., Y.D., C.M.), Zhengzhou University,Henan, P. R. China; Henan Key Laboratory of Cerebrovascular Diseases (Y.S., L.F., C.S., H.Z., H.L., S.Z., Z.H., Y.F., Y.D., J.Y., C.M., Y.X.), The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Henan, P. R. China; Sino-British Research Centre for Molecular Oncology (C.S., C.M.), National Centre for International Research in Cell and Gene Therapy, School of Basic Medical Sciences, Academy of Medical Sciences, Zhengzhou University, Henan, P. R. China; and Institute of Neuroscience (J.W., Y.X.), Zhengzhou University, Henan, P. R. China.
Haiyang LuoFrom the Department of Neurology (Y.S., L.F., C.S., T.W., H.Z., H.L., S.Z., Z.H., Y.F., Y.D., J.Y., C.M., Y.X.), The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Henan, P. R. China; The Academy of Medical Sciences of Zhengzhou University (Y.S., L.F., C.S., T.E., H.Z., H.L., S.Z., Z.H., Y.F., Y.D., C.M.), Zhengzhou University,Henan, P. R. China; Henan Key Laboratory of Cerebrovascular Diseases (Y.S., L.F., C.S., H.Z., H.L., S.Z., Z.H., Y.F., Y.D., J.Y., C.M., Y.X.), The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Henan, P. R. China; Sino-British Research Centre for Molecular Oncology (C.S., C.M.), National Centre for International Research in Cell and Gene Therapy, School of Basic Medical Sciences, Academy of Medical Sciences, Zhengzhou University, Henan, P. R. China; and Institute of Neuroscience (J.W., Y.X.), Zhengzhou University, Henan, P. R. China.
Shuo ZhangFrom the Department of Neurology (Y.S., L.F., C.S., T.W., H.Z., H.L., S.Z., Z.H., Y.F., Y.D., J.Y., C.M., Y.X.), The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Henan, P. R. China; The Academy of Medical Sciences of Zhengzhou University (Y.S., L.F., C.S., T.E., H.Z., H.L., S.Z., Z.H., Y.F., Y.D., C.M.), Zhengzhou University,Henan, P. R. China; Henan Key Laboratory of Cerebrovascular Diseases (Y.S., L.F., C.S., H.Z., H.L., S.Z., Z.H., Y.F., Y.D., J.Y., C.M., Y.X.), The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Henan, P. R. China; Sino-British Research Centre for Molecular Oncology (C.S., C.M.), National Centre for International Research in Cell and Gene Therapy, School of Basic Medical Sciences, Academy of Medical Sciences, Zhengzhou University, Henan, P. R. China; and Institute of Neuroscience (J.W., Y.X.), Zhengzhou University, Henan, P. R. China.
Zhengwei HuFrom the Department of Neurology (Y.S., L.F., C.S., T.W., H.Z., H.L., S.Z., Z.H., Y.F., Y.D., J.Y., C.M., Y.X.), The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Henan, P. R. China; The Academy of Medical Sciences of Zhengzhou University (Y.S., L.F., C.S., T.E., H.Z., H.L., S.Z., Z.H., Y.F., Y.D., C.M.), Zhengzhou University,Henan, P. R. China; Henan Key Laboratory of Cerebrovascular Diseases (Y.S., L.F., C.S., H.Z., H.L., S.Z., Z.H., Y.F., Y.D., J.Y., C.M., Y.X.), The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Henan, P. R. China; Sino-British Research Centre for Molecular Oncology (C.S., C.M.), National Centre for International Research in Cell and Gene Therapy, School of Basic Medical Sciences, Academy of Medical Sciences, Zhengzhou University, Henan, P. R. China; and Institute of Neuroscience (J.W., Y.X.), Zhengzhou University, Henan, P. R. China.
Yu FanFrom the Department of Neurology (Y.S., L.F., C.S., T.W., H.Z., H.L., S.Z., Z.H., Y.F., Y.D., J.Y., C.M., Y.X.), The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Henan, P. R. China; The Academy of Medical Sciences of Zhengzhou University (Y.S., L.F., C.S., T.E., H.Z., H.L., S.Z., Z.H., Y.F., Y.D., C.M.), Zhengzhou University,Henan, P. R. China; Henan Key Laboratory of Cerebrovascular Diseases (Y.S., L.F., C.S., H.Z., H.L., S.Z., Z.H., Y.F., Y.D., J.Y., C.M., Y.X.), The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Henan, P. R. China; Sino-British Research Centre for Molecular Oncology (C.S., C.M.), National Centre for International Research in Cell and Gene Therapy, School of Basic Medical Sciences, Academy of Medical Sciences, Zhengzhou University, Henan, P. R. China; and Institute of Neuroscience (J.W., Y.X.), Zhengzhou University, Henan, P. R. China.
Yali DongFrom the Department of Neurology (Y.S., L.F., C.S., T.W., H.Z., H.L., S.Z., Z.H., Y.F., Y.D., J.Y., C.M., Y.X.), The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Henan, P. R. China; The Academy of Medical Sciences of Zhengzhou University (Y.S., L.F., C.S., T.E., H.Z., H.L., S.Z., Z.H., Y.F., Y.D., C.M.), Zhengzhou University,Henan, P. R. China; Henan Key Laboratory of Cerebrovascular Diseases (Y.S., L.F., C.S., H.Z., H.L., S.Z., Z.H., Y.F., Y.D., J.Y., C.M., Y.X.), The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Henan, P. R. China; Sino-British Research Centre for Molecular Oncology (C.S., C.M.), National Centre for International Research in Cell and Gene Therapy, School of Basic Medical Sciences, Academy of Medical Sciences, Zhengzhou University, Henan, P. R. China; and Institute of Neuroscience (J.W., Y.X.), Zhengzhou University, Henan, P. R. China.
Jing YangFrom the Department of Neurology (Y.S., L.F., C.S., T.W., H.Z., H.L., S.Z., Z.H., Y.F., Y.D., J.Y., C.M., Y.X.), The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Henan, P. R. China; The Academy of Medical Sciences of Zhengzhou University (Y.S., L.F., C.S., T.E., H.Z., H.L., S.Z., Z.H., Y.F., Y.D., C.M.), Zhengzhou University,Henan, P. R. China; Henan Key Laboratory of Cerebrovascular Diseases (Y.S., L.F., C.S., H.Z., H.L., S.Z., Z.H., Y.F., Y.D., J.Y., C.M., Y.X.), The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Henan, P. R. China; Sino-British Research Centre for Molecular Oncology (C.S., C.M.), National Centre for International Research in Cell and Gene Therapy, School of Basic Medical Sciences, Academy of Medical Sciences, Zhengzhou University, Henan, P. R. China; and Institute of Neuroscience (J.W., Y.X.), Zhengzhou University, Henan, P. R. China.
Chengyuan MaoFrom the Department of Neurology (Y.S., L.F., C.S., T.W., H.Z., H.L., S.Z., Z.H., Y.F., Y.D., J.Y., C.M., Y.X.), The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Henan, P. R. China; The Academy of Medical Sciences of Zhengzhou University (Y.S., L.F., C.S., T.E., H.Z., H.L., S.Z., Z.H., Y.F., Y.D., C.M.), Zhengzhou University,Henan, P. R. China; Henan Key Laboratory of Cerebrovascular Diseases (Y.S., L.F., C.S., H.Z., H.L., S.Z., Z.H., Y.F., Y.D., J.Y., C.M., Y.X.), The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Henan, P. R. China; Sino-British Research Centre for Molecular Oncology (C.S., C.M.), National Centre for International Research in Cell and Gene Therapy, School of Basic Medical Sciences, Academy of Medical Sciences, Zhengzhou University, Henan, P. R. China; and Institute of Neuroscience (J.W., Y.X.), Zhengzhou University, Henan, P. R. China.
Yuming XuFrom the Department of Neurology (Y.S., L.F., C.S., T.W., H.Z., H.L., S.Z., Z.H., Y.F., Y.D., J.Y., C.M., Y.X.), The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Henan, P. R. China; The Academy of Medical Sciences of Zhengzhou University (Y.S., L.F., C.S., T.E., H.Z., H.L., S.Z., Z.H., Y.F., Y.D., C.M.), Zhengzhou University,Henan, P. R. China; Henan Key Laboratory of Cerebrovascular Diseases (Y.S., L.F., C.S., H.Z., H.L., S.Z., Z.H., Y.F., Y.D., J.Y., C.M., Y.X.), The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Henan, P. R. China; Sino-British Research Centre for Molecular Oncology (C.S., C.M.), National Centre for International Research in Cell and Gene Therapy, School of Basic Medical Sciences, Academy of Medical Sciences, Zhengzhou University, Henan, P. R. China; and Institute of Neuroscience (J.W., Y.X.), Zhengzhou University, Henan, P. R. China. xuyuming@zzu.edu.cn maochengyuan2015@126.com.
First Affiliated Hospital of Zhengzhou University · CNZhengzhou University · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Neurodegenerative diseases exhibit chronic progressive lesions in the central and peripheral nervous systems with unclear causes. The search for pathogenic mutations in human neurodegenerative diseases has benefited from massively parallel short-read sequencers. However, genomic regions, including repetitive elements, especially with high/low GC content, are far beyond the capability of conventional approaches. Recently, long-read single-molecule DNA sequencing technologies have emerged and enabled researchers to study genomes, transcriptomes, and metagenomes at unprecedented resolutions. The identification of novel mutations in unresolved neurodegenerative disorders, the characterization of causative repeat expansions, and the direct detection of epigenetic modifications on naive DNA by virtue of long-read sequencers will further expand our understanding of neurodegenerative diseases. In this article, we review and compare 2 prevailing long-read sequencing technologies, Pacific Biosciences and Oxford Nanopore Technologies, and discuss their applications in neurodegenerative diseases.

Indexed as

HumansNeurodegenerative DiseasesRepetitive Sequences, Nucleic AcidSequence Analysis, DNA

Identifiers

PMID34389649
PMCPMC8408508
OpenAlexW3187569042

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Registered trials

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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.