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Cancer Genomics Course


University of Sydney - 25th to 27th July 2017

Instructors

  • Katherine Champ (KC)- Bioplatforms Australia, Sydney
  • Ann-Marie Patch (AMP) - QIMR Berghofer, Brisbane
  • Gayle Philip (GP) - Melbourne Bioinformatics, Melbourne
  • Erdahl Teber (ET) - CMRI, Sydney
  • Sonika Tyagi (ST) - AGRF, Melbourne

Timetable

Day 1

25th July - Computer Lab 1.4, Charles Perkins Centre, University of Sydney, NSW

Time Topic Links Instructor
9:00 Welcome KC
9:15 Introduction to cancer genomics and NGS techniques – focus on DNA AMP
10:15 Break
10:30 Experimental design (interactive/ice breaker/group activity) and caveats; considerations on processing capacities; 10 ways to ruin your experiment AMP
11:30 Command line intro (Unix, R) – L(15’) / P(30’) Practical
12:30 Lunch
13:30 Raw data - FASTQ format and QC [Slides]
14:00 Alignment (L) ST/GP
14:30 Practical: Manipulation of BAM files and QC ST/GP
15:00 Coffee break
15:15 Practical: Manipulation of BAM files and QC (cont.) ST/GP
17:00 Q&A All

Day 2

26th July - Computer Lab 1.4, Charles Perkins Centre, University of Sydney, NSW

Time Topic Links Instructor
9:00 SNV detection (review, germline vs somatic, tools, pitfalls, data visualization) – L/P. Indels – cover in SNV lecture + bonus exercises (P), specific challenges of indels analysis, tools ST
9:45 Practical: SNV detection ST
10:30 Coffee break
10:45 Variants annotation and filtration (L) – tools landscape ST
11:00 Practical: Variants visualization (IGV), annotation and filtration ST
12:30 Lunch + coffee
13:30 CNV analysis using NGS data (L) GP/AMP
14:15 Practical: CNV analysis – deletion/amplification, calling CNVs, visualization, interpretation GP/AMP
15:00 Break
15:15 Practical: CNV analysis – deletion/amplification, calling CNVs, visualization, interpretation (cont.) GP/AMP
17:00 Q&A All

Day 3

27th July - Computer Lab 1.4, Charles Perkins Centre, University of Sydney, NSW

Time Topic Links Instructor
9:00 SV analysis – breakpoints/fusion, tools AMP
9:45 Practical: SV analysis – breakpoints/fusion ET
10:30 Coffee break
10:45 Practical: SV analysis – breakpoints/fusion (cont.) ET
12:30 Lunch
13:30 Downstream analysis and interpretation – Exploration of resources that can be used for this. E.g. databases (COSMIC, TCGA, etc.), integration with clinical information AMP
14:15 Practical: Downstream analysis and interpretation AMP
15:00 Coffee break
15:15 Practical: Downstream analysis and interpretation(cont.) AMP
16:00 How does it all link together? Integration of different data types Mark Cowley
16:45 Q&A, wrap up (how to access course’s VM) & survey All