Deciphering Brain Mosaicism with Long-read Sequencing

Deciphering Brain Mosaicism with Long-read Sequencing

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Intro

1 of 20

1 of 20

Intro

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Deciphering Brain Mosaicism with Long-read Sequencing

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  1. 1 Intro
  2. 2 Overview
  3. 3 Somatic Mosaicism
  4. 4 Brain Somatic Mutations
  5. 5 Types of Somatic Mutations
  6. 6 Malformations of Cortical Development
  7. 7 Identifying mosaicism in patients
  8. 8 Case of Hemimegalencephaly
  9. 9 Somatic variants in PTEN
  10. 10 Predicted protein effects
  11. 11 Variant distribution
  12. 12 Phasing variants
  13. 13 Functional differences
  14. 14 Single-cell 3'-RNA-seq
  15. 15 Integrating long-read sequencing
  16. 16 Integrating genotype and cell type
  17. 17 Variant cells among cell types
  18. 18 Clinical Implications
  19. 19 Summary and Conclusions
  20. 20 Acknowledgments

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