Next- and third-generation sequencing methods in medical diagnostics 2023/2024
Miro Board
please register using your uniri emailLiterature
- Animation: The Central Dogma
- Adams and Eng "Next-Generation Sequencing to Diagnose Suspected Genetic Disorders." N Engl J Med. 2018 Oct 4; 379:1353-62
- McCombie et al "Next-Generation Sequencing Technologies"
- Kamps et al. "Next-Generation Sequencing in Oncology: Genetic Diagnosis, Risk Prediction and Cancer Classification." Int. J. Mol. Sci. 2017, 18, 308
- ACMG Guidelines for germline variant interpretation
- AMP Guidelines for the interpretation and reporting of the sequence variants in cancer
- Royal Australian College of General Practitioners' Genomics in general practice
- Molecular Biology of the Cell, 4th ed. Alberts, et al
A note about grading
In each meeting, 1 point is earned by active participation / keeping the camera on, and up to 4 points by creating a presentation that demonstrates interest and understanding the assigned topic.Completed Exercises
Points earned:| Dogma | Phenotype | Genome | NGS1 | NGS2 | Panel1 | Panel2 | WES | |
|---|---|---|---|---|---|---|---|---|
| AJ | 4+1 | |||||||
| FB | 4+1 | 3.9+1 | ||||||
| FS | 4+1 | 3.9+0 | ||||||
| LH | 4+1 | |||||||
| MB | 4+1 | |||||||
| PI | 4+1 | |||||||
| SD | 4+1 | |||||||
| TS | 4+1 |