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Integrating copy-number analysis with structural-variation detection in 50 ALS patients with two extreme survival phenotypes

Published on Jul 21, 2017804 Views

Background: Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease predominantly of motor neurons, characterized by progressive weakness of voluntary muscles and death from respiratory f

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Chapter list

Integrating copy-number analysis with structural-variation detection in 50 ALS patients with two extreme survival phenotypes00:00
ALS Gene00:12
ALS Gene Hunting Methods00:46
ALS Gene Study Methods01:32
CNVs02:04
Methodological designs applied to maximize the power of detection - 102:37
Methodological designs applied to maximize the power of detection - 202:45
Methodological designs applied to maximize the power of detection - 302:59
Sample Selection03:06
Demographic features of the long and short survival groups03:34
Pipeline - 104:13
Pipeline - 204:33
Mapping Copy Number Variations 04:42
Copy Number variation analysis05:14
Structural variations and CNVs observed in ALS short survival group05:42
Comparison between CNV observed in chromosome 20 between the long and short survival groups 06:35
Conclusions07:03
The Team07:26