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- Title
The role of copy number variation in susceptibility to amyotrophic lateral sclerosis: genome-wide association study and comparison with published loci.
- Authors
Wain, Louise V; Pedroso, Inti; Landers, John E; Breen, Gerome; Shaw, Christopher E; Leigh, P Nigel; Brown, Robert H; Tobin, Martin D; Al-Chalabi, Ammar
- Abstract
The genetic contribution to sporadic amyotrophic lateral sclerosis (ALS) has not been fully elucidated. There are increasing efforts to characterise the role of copy number variants (CNVs) in human diseases; two previous studies concluded that CNVs may influence risk of sporadic ALS, with multiple rare CNVs more important than common CNVs. A little-explored issue surrounding genome-wide CNV association studies is that of post-calling filtering and merging of raw CNV calls. We undertook simulations to define filter thresholds and considered optimal ways of merging overlapping CNV calls for association testing, taking into consideration possibly overlapping or nested, but distinct, CNVs and boundary estimation uncertainty.
- Publication
PloS one, 2009, Vol 4, Issue 12, pe8175
- ISSN
1932-6203
- Publication type
Journal Article
- DOI
10.1371/journal.pone.0008175