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Case of Hemimegalencephaly
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Classroom Contents
Deciphering Brain Mosaicism with Long-read Sequencing
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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
