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The panorama of ALS genomics

Published on Jul 21, 2017896 Views

Russell McLaughlin

ALS is a complex disorder, with no single genetic or environmental cause and no known cure. While heritability estimates show us that genetic risk factors clearly play an important role in the disea

ENCALS 2017 - Ljubljana

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MedicineNeuroscience

Chapter list

The panorama of ALS genomics00:00
Is ALS genetic? - 100:21
Is ALS genetic? - 201:09
Non-genetic risk02:11
Genetics of ALS03:16
How do we discover new ALS genes?05:30
2016 ALS GWAS - 107:20
2016 ALS GWAS - 210:18
Heritability revisited11:19
Genetic correlation12:04
ALS and schizophrenia are genetically correlated - 113:33
ALS and schizophrenia are genetically correlated - 214:09
GWAS in ALS - 115:24
GWAS in ALS - 215:48
GWAS in ALS - 316:54
GWAS in ALS - 417:45
Finding rare variants20:15
Implicating rare variants - 121:41
Implicating rare variants - 222:46
Implicating rare variants - 323:33
Implicating rare variants - 424:38
Exome sequencing in ALS25:14
Updating ALS genomics - 125:30
Updating ALS genomics - 226:12
From exome to whole-genome sequencing26:19
Whole-genome sequencing in large populations26:35
A hypothesis - 126:36
A hypothesis - 227:00
Some questions in ALS genomics - 127:45
Some questions in ALS genomics - 228:23
Repeat expansions are hard to sequence29:14
Some questions in ALS genomics - 329:52
Some questions in ALS genomics - 429:57
C9orf72 repeat expansion30:25
Some questions in ALS genomics - 531:31
Some questions in ALS genomics - 631:41
Developmental dynamics of repeat expansion stability32:15
Some questions in ALS genomics - 733:05
Some questions in ALS genomics - 833:18
Some questions in ALS genomics - 933:27
How can we find (novel) repeat expansions? - 133:54
How can we find (novel) repeat expansions? - 234:00
Finding repeat expansions - 134:01
Finding repeat expansions - 234:04
Finding repeat expansions - 334:05
Can we directly measure repeat expansions? - 134:05
Can we directly measure repeat expansions? - 235:07
NGS vs 3GS35:35
How long is a long read?36:02
How long is a long read?36:38
C9orf72 locus with Oxford Nanopore - 137:02
C9orf72 locus with Oxford Nanopore - 237:18
Acknowledgements37:53