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1
Intro
2
Overview
3
Somatic Mosaicism
4
Brain Somatic Mutations
5
Types of Somatic Mutations
6
Malformations of Cortical Development
7
Identifying mosaicism in patients
8
Case of Hemimegalencephaly
9
Somatic variants in PTEN
10
Predicted protein effects
11
Variant distribution
12
Phasing variants
13
Functional differences
14
Single-cell 3'-RNA-seq
15
Integrating long-read sequencing
16
Integrating genotype and cell type
17
Variant cells among cell types
18
Clinical Implications
19
Summary and Conclusions
20
Acknowledgments
Description:
Explore the fascinating world of brain mosaicism and its implications for neurodevelopmental disorders in this 25-minute webinar presented by Dr. Tracy Bedrosian. Delve into the cutting-edge research that combines high-throughput single-cell 3'-RNA-sequencing with targeted Iso-Seq long-read RNA sequencing to uncover how somatic mutations contribute to developmental brain malformations. Learn about the challenges in determining the impact of mosaic mutations on cell lineages and individual cell function, and discover how this innovative approach is applied to surgically-resected patient brain tissue. Gain insights into the types of somatic mutations, malformations of cortical development, and the process of identifying mosaicism in patients. Examine a case study on hemimegalencephaly, focusing on somatic variants in PTEN and their predicted protein effects. Understand the integration of genotype and cell type data, and explore the clinical implications of this research. This webinar offers a comprehensive overview of the latest advancements in deciphering brain mosaicism using long-read sequencing techniques, providing valuable knowledge for researchers and clinicians in the field of neurodevelopmental disorders. Read more

Deciphering Brain Mosaicism with Long-read Sequencing

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