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Whole genome sequencing as tool to unravel rare variants associated with ALS survival
Published on Jul 21, 2017773 Views
Background: Amyotrophic lateral sclerosis (ALS) usually leads to death within 3 to 5 years, but a high variability in patient survival has been observed, with 5% of the patients surviving more than
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Whole genome sequencing a tool to unravel rare variants associated with ALS survival00:00
Clinical presentation of ALS00:04
Project MINE00:29
Survival analysis00:39
ALS and survival00:41
Findings - 100:58
Findings - 201:21
Additive effect01:37
QQ plots reveal deviation from expected02:00
QQ deviation due to rare variants02:14
Issues02:38
Permutations03:07
Validation cohort03:24
ALS and survival extremes03:52
Extremes analysis04:21
Onset analysis04:54
ALS and onset05:00
Findings - 105:08
Findings - 205:41
Pathway analysis05:44
Acknowledgments06:06