Journal
NEUROSCIENTIST
Volume 21, Issue 6, Pages 599-615Publisher
SAGE PUBLICATIONS INC
DOI: 10.1177/1073858414555404
Keywords
amyotrophic lateral sclerosis; genetic study; epigenetic study; genome-wide association study; next-generation sequencing study
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Funding
- National Natural Sciences Foundation of China [81030019]
- Ross Maclean Senior Research Fellowship
- National Health and Medical Research Council (Australia)
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Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease of obscure etiology. Multiple genetic studies have been conducted to advance our understanding of the disease, employing a variety of techniques such as linkage mapping in families, to genome-wide association studies and sequencing based approaches such as whole exome sequencing and whole genome sequencing and a few epigenetic analyses. While major progress has been made, the majority of the genetic variation involved in ALS is yet to be undefined. The optimal study designs to investigate ALS depend on the genetic model for the disease, and it is likely that different approaches will be required to map genes involved in familial and sporadic disease. The potential approaches and their strengths and weaknesses are discussed.
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