The Genomics Education Programme is delighted to present a special three-part educational programme on how to read the cancer genome, presented by Professor Serena Nik-Zainal.
The first part of the series focuses on the basics of cancer genomics, from raw sequence reads through to somatic mutations.
Professor Nik-Zainal is an NIHR research professor and an honorary consultant in clinical genetics. Professor Nik-Zainal is a celebrated leader in somatic cancer research and has spearheaded work into mutational signatures and their application to clinical practice.
TIMESTAMPS
00:00 Opening comments
05:11 Four points of cancer genome sequencing and analysis
11:31 QC of tumour sequence data - what to consider
14:45 Primary analysis - aligning the cancer genome back with a reference genome
16:16 Secondary analysis - algorithms and how mutation-calling works
27:46 Post-hoc filtering is the most important step
30:44 How to perform copy number profiling in cancer
38:40 Tertiary analysis - driver mutations, oncogenes, tumour suppressors and worked examples
49:54 Tertiary analysis - amplification and homozygous deletions in cancer
54:21 Tertiary analysis - About gene fusions and why they're important to find
59:47 End of part 1 - Q&A and wrap up
