Comprehensive identification of pathogenic tandem repeat expansions in sporadic amyotrophic lateral sclerosis: advantages of long-read vs. short-read sequencing

Comprehensive identification of pathogenic tandem repeat expansions in sporadic amyotrophic lateral sclerosis: advantages of long-read vs. short-read sequencing

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder presenting progressive weakness of the bulbar and extremity muscles, leading to a wide-ranging clinical phenotype. More than 30 genes have been associated to genetically inherited ALS yet, approximately 85%–90% of ALS cases are spor...

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Bibliographic Details
Main Authors: Eleonora Sabetta, Karin Rallmann, Jonas Bergquist, Pille Taba, Abigail L. Pfaff, Bal Hari Poudel, Davide Ferrari, Massimo Locatelli, Sulev Kõks
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-07-01
Series:Experimental Biology and Medicine
Subjects:
genetic architecture
sporadic amyotrophic lateral sclerosis (ALS)
tandem repeats
neurodegenerative disorders
short-read sequencing
long-read sequencing
Online Access:https://www.ebm-journal.org/articles/10.3389/ebm.2025.10593/full
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