Next- and third-generation sequencing methods in medical diagnostics 2023/2024

Miro Board

Literature

• 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

Completed Exercises

• Dogma = review of the key biology terms
• Phenotype = how variants generate disease phenotypes: examples
• Genome = locating variants in the genome browser and understanding the impact they have on the gene level
• NGS1 = how the NGS sequencing is actually done
• NGS2 = clinical applications of NGS: panels, WES, WGS, long reads
• WES = Demo 1: solving a rare disease case
• Appl = Advanced applications of NGS
• Onco = Demo2: interpreting results of NGS screening in cancer