Advances in sequencing technologies for amyotrophic lateral sclerosis research

Evan Udine, Angita Jain, Marka van Blitterswijk

Research output: Contribution to journalReview articlepeer-review

Abstract

Amyotrophic lateral sclerosis (ALS) is caused by upper and lower motor neuron loss and has a fairly rapid disease progression, leading to fatality in an average of 2-5 years after symptom onset. Numerous genes have been implicated in this disease; however, many cases remain unexplained. Several technologies are being used to identify regions of interest and investigate candidate genes. Initial approaches to detect ALS genes include, among others, linkage analysis, Sanger sequencing, and genome-wide association studies. More recently, next-generation sequencing methods, such as whole-exome and whole-genome sequencing, have been introduced. While those methods have been particularly useful in discovering new ALS-linked genes, methodological advances are becoming increasingly important, especially given the complex genetics of ALS. Novel sequencing technologies, like long-read sequencing, are beginning to be used to uncover the contribution of repeat expansions and other types of structural variation, which may help explain missing heritability in ALS. In this review, we discuss how popular and/or upcoming methods are being used to discover ALS genes, highlighting emerging long-read sequencing platforms and their role in aiding our understanding of this challenging disease.

Original languageEnglish (US)
Article number4
JournalMolecular neurodegeneration
Volume18
Issue number1
DOIs
StatePublished - Dec 2023

Keywords

  • Amyotrophic lateral sclerosis
  • DNA sequencing
  • Long-read sequencing
  • Multi-omics
  • Nanopore sequencing
  • SMRT sequencing

ASJC Scopus subject areas

  • Molecular Biology
  • Clinical Neurology
  • Cellular and Molecular Neuroscience

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