Evidence map›Paper›PMID 36635726›Full record

ReviewMolecular neurodegeneration2023

Advances in sequencing technologies for amyotrophic lateral sclerosis research.

Evan Udine, Angita Jain, Marka van Blitterswijk

Open access · goldAbstract readReview
In one paragraph

Review in Molecular neurodegeneration, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.

0numbers the graph read from it
0cells of the map it votes in
15citing papers in PubMed
10.3field-weighted citation impact, top 1% 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

15 citing papers in PubMed, 20 citations in OpenAlex.

  1. Article
  2. Article
  3. Consequences of the Novel ALS-AssociatedNeurology. Genetics · 2026
    Article
  4. Review
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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 1 institution in 1 country.

Evan UdineDepartment of Neuroscience, Mayo Clinic, 4500 San Pablo Road S, Jacksonville, FL, 32224, USA.
Angita JainDepartment of Neuroscience, Mayo Clinic, 4500 San Pablo Road S, Jacksonville, FL, 32224, USA.
Marka van BlitterswijkDepartment of Neuroscience, Mayo Clinic, 4500 San Pablo Road S, Jacksonville, FL, 32224, USA. VanBlitterswijk.Marka@mayo.edu.ORCID 0000-0002-3054-7053
Jacksonville College · US

Funding

NRSA Training CoreTL1TR002380 · NCATS · MAYO CLINIC ROCHESTER · PI Felicity T. B. Enders, ANTHONY John WINDEBANK · 2017 to 2026
$6.0M
Frontotemporal dementia and related disorders: transcriptomic profiling, biomarker discovery, and mechanistic insightR01NS121125 · NINDS · MAYO CLINIC JACKSONVILLE · PI GENDRON, TANIA FRANCE, VAN BLITTERSWIJK, MARKA · 2021 to 2025
$3.9M
C9orf72-mediated features, transcriptomic signatures, and translational studies for frontotemporal dementia and related disordersRF1NS123052 · NINDS · MAYO CLINIC JACKSONVILLE · PI VAN BLITTERSWIJK, MARKA · 2022 to 2022
$2.4M
NCATS NIH HHS TL1 TR002380NINDS NIH HHS NS121125NINDS NIH HHS NS123052NINDS NIH HHS R01 NS121125NINDS NIH HHS RF1 NS123052
6 · The paper itself

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.

Indexed as

Amyotrophic Lateral SclerosisGenome-Wide Association StudyHigh-Throughput Nucleotide SequencingHumansAmyotrophic lateral sclerosisDNA sequencingLong-read sequencingMulti-omicsNanopore sequencingSMRT sequencing

Identifiers

PMID36635726
PMCPMC9838075
OpenAlexW4315783075

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.