Concurrent Workshops

These workshops will be held concurrently on Saturday 1st April.  Please indicate which you intend to attend during registration.

Workshop 1: Bioinformatics
Chair: Dr Sebastian Lunke & Roxane Legaie

An interactive bioinformatics workshop covering different areas of bioinformatics for diagnostic genomics.

Join us for an interactive workshop where we delve into Bioinformatics for genomics. We will have a panel of bioinformaticians giving short presentations. These will be followed by an open floor discussion where attendees can ask the panel their questions.

  1. Introduction to Bioinformatics
  1. Applications of Next Generation Sequencing
  •   Panels / Exomes / Genomes
  •   NIPT / CNVs
  •   RNAseq
  1. DNAseq analysis with Galaxy
  1. RNAseq analysis using R
  1. Panel discussion / final Q&A [if time permits]

(Delegates are welcome to bring cases along to address panel if time permits, if possible please submit before the conference to workshop facilitator Dr Sebastian Lunke.)

Workshop 2: Microarray analysis and case
Chair: Amber Boys

A workshop covering 3 categories relevant to microarray analysis, interpretation, and reporting.

Join us for an interactive workshop covering 3 categories relevant to microarray analysis, interpretation, and reporting.

1: Use of the UCSC browser and other online tools.

Let’s see if between us we can come up with 10 tips for the use of the UCSC browser. Be prepared to jump on stage and share your hot tip!

Do you use an online tool that is likely to be useful to your colleagues? If you would like to show us how to use an online tool please email me an expression of interest by Monday 20th March. Hopefully you can walk us through how to use the tool live during the workshop.

2: Data interpretation.

Do you see things in your data or a case that you just can’t explain or interpret? Email me a 3 PowerPoint slide presentation to explain your situation (by Monday 20th March) and we will see if a room full of experts can explain it. There is also room in this session for sponsors to showcase their microarray data analysis software (if they would like, 3 PowerPoint slides only).

3: Report writing.

In Australia and New Zealand the reporting policies between laboratories seem to differ greatly. The clearly pathogenic and clearly benign CNVs we see during our analysis are typically easy to interpret and are likely to have consistency in reporting across the Australasian laboratories. It’s the unknown CNVs that are difficult to evaluate. Here is your chance to discuss those difficult CNV’s. Perhaps we could get a debate going about the utility in reporting heterozygous 2q13 NPHP1 deletions. Do you report or dismiss intragenic 6q26 PARK2 deletions and duplications? If you have an opinion to share about these CNVs or any of your other difficult favourites please email me a 3 slide PowerPoint by March 20th.

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