Download Clinical Genomic Data Analysis: A Practical Course

 Objectives Clinical Genomic Data Analysis: A Practical Course Times To explore and examine clinical genomic data in depth; To develop an understanding of processes that underpin clinical genomic data analysis; and To obtain hands on experience in identifying variants and deducing their impact. Monday Tuesday Wednesday Thursday Morning (9am start) Talk: Lecture: Genomics and genome Genome filtering structure Talk: Homozygosity mapping and recessive disorders Morning Talk: How do you call a mutation? Workshop: Genome filtering Workshop: Genome filtering and homozygosity mapping Afternoon Workshop: Calling mutations Talk: Copy Number Variants Talk: Quality metrics Workshop: Copy Number Variants Workshop: Quality metrics Panel/workshop: Genome ethics and consent Optional event: NGS talks and networking Afternoon (finish time will vary from 3.30 to 5pm) Evening Tour: KCCG genomics facility Talk: Gene networks, protein modelling and clinical databases Workshop: Tools to assist analysis when a result is not clear Talk: How to write a genomic report Friday Talks: Molecular biology of cancer; Cancer genomics (practicality & pathology) Workshop: Cancer genomic data and analysis Talk: Cancer genomics in research and whole genome sequencing (WGS) Task: Solving a family [self-­‐assessment opportunity with individual feedback] Please note this outline may be subject to change in line with course applications and the composition of the attendees. Specific timings and objectives for each day will be provided directly to participants. Course Convenor: Dr Tony Roscioli. Faculty members/speakers for 14-­‐18 December include: Prof Michael Buckley, A/Prof Kristine Barlow-­‐Stewart, Dr Mark Cowley, Prof Michael Field, Dr Andre Minoche, Prof Sandra O’Toole, Dr Aaron Statham, Prof Neil Watkins. Education coordinator: Bronwyn Terrill ([email protected]).