Structural Variants May Be a Source of Missing Heritability in sALS

Structural Variants May Be a Source of Missing Heritability in sALS

The underlying genetic and molecular mechanisms that drive amyotrophic lateral sclerosis (ALS) remain poorly understood. Structural variants within the genome can play a significant role in neurodegenerative disease risk, such as the repeat expansion in C9orf72 and the tri-nucleotide repeat in ATXN2...

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Bibliographic Details
Main Authors: Frances Theunissen, Loren L. Flynn, Ryan S. Anderton, Frank Mastaglia, Julia Pytte, Leanne Jiang, Stuart Hodgetts, Daniel K. Burns, Ann Saunders, Sue Fletcher, Steve D. Wilton, Patrick Anthony Akkari
Format: Article
Language:English
Published: Frontiers Media S.A. 2020-01-01
Series:Frontiers in Neuroscience
Subjects:
amyotrophic lateral sclerosis
structural variant
genetic marker
missing heritability
clinical trial stratification
Online Access:https://www.frontiersin.org/article/10.3389/fnins.2020.00047/full

Internet

https://www.frontiersin.org/article/10.3389/fnins.2020.00047/full

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