Genomic Technologies in Clinical Diagnostics: Next Generation Sequencing

This course focuses on genomic sequencing.
Topics covered:
- The changing landscape of genomics: From Sanger sequencing to Next Generation Sequencing
- Overview of Next Generation Sequencing platforms and their methodology
- Targeted resequencing
- Alignment, variant calling and annotation
- Other applications of Next Generation Sequencing beyond DNA sequencing
- Next Generation Sequencing in gene discovery
- Gene discovery in the research and diagnostics
- Next Generation Sequencing in clinical diagnostics: Single gene, gene panel sequencing, exome and genome sequencing
- How to design a gene panel
- The 100 000 Genomes project

Keywords: Rare Diseases & Research


Additional information

Target audience: postgrad, Scientists, Healthcare

Resource type: e-learning

Scientific topics: Rare diseases