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Related Concept Videos

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The first human genome sequencing project cost $2.7 billion and was declared complete in 2003, after 15 years of international cooperation and collaboration between several research teams and funding agencies. Today, with the advent of next-generation sequencing technologies, the cost and time of sequencing a human genome have dropped over 100 fold.
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DNA sequencing is a fundamental technique that is routinely used in the biological sciences. This method can be applied to a range of questions at different scales - from the sequencing of a cloned DNA fragment or the study of a mutation in a gene up to whole-genome sequencing. However, despite the widespread use of sequencing today, it was not until 1977 that Fredrick Sanger and his collaborators developed the chain-termination method to decode DNA sequences. It relies on the separation of a...
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Deciphering Neurodegenerative Diseases Using Long-Read Sequencing.

Yun Su1, Liyuan Fan1, Changhe Shi1

  • 1From 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.

Neurology
|August 14, 2021
PubMed
Summary

Long-read sequencing technologies offer new ways to study neurodegenerative diseases by overcoming limitations of short-read methods. These advanced techniques aid in identifying novel mutations and understanding complex genetic factors in these disorders.

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Area of Science:

  • Genomics
  • Neuroscience
  • Biotechnology

Background:

  • Neurodegenerative diseases are progressive nervous system disorders with unknown causes.
  • Short-read sequencing has limitations in analyzing complex genomic regions like repetitive elements.
  • Understanding genetic underpinnings is crucial for diagnosing and treating these diseases.

Purpose of the Study:

  • To review and compare two leading long-read sequencing technologies: Pacific Biosciences and Oxford Nanopore Technologies.
  • To discuss the applications of long-read sequencing in advancing the study of neurodegenerative diseases.
  • To highlight the potential of long-read sequencing in identifying novel mutations and understanding disease mechanisms.

Main Methods:

  • Review of current literature on long-read sequencing technologies.
  • Comparative analysis of Pacific Biosciences and Oxford Nanopore Technologies platforms.
  • Discussion of case studies and potential applications in neurodegenerative disease research.

Main Results:

  • Long-read sequencing overcomes limitations of short-read approaches in analyzing challenging genomic regions.
  • Technologies like Pacific Biosciences and Oxford Nanopore enable high-resolution genome, transcriptome, and epigenome analysis.
  • Potential for identifying novel mutations, characterizing repeat expansions, and detecting epigenetic modifications in neurodegenerative disorders.

Conclusions:

  • Long-read sequencing technologies represent a significant advancement for neurodegenerative disease research.
  • These methods offer unprecedented resolution for studying complex genetic factors and disease mechanisms.
  • Further application of long-read sequencing will expand our understanding and potentially lead to new therapeutic strategies.