Bioinformatics Seminars

Bioinformatics Seminar

Time: 10:45am Tuesdays.
Level 7 Seminar Room 2, WEHI1

21 May 2019

Get your variants together! Call and combine time-course mutations from Leukemia RNA-Seq

Anna Quaglieri
WEHI Bioinformatics

RNA Sequencing allows researchers to study the cancer genome from different perspectives than differential expression analyses. For example, it is used to detect fusion genes, differentially spliced genes and it can also be used to call mutations, a key component in the study of cancer. In this talk, I will discuss the strategies that I used to call variants from RNA-Seq samples and that were applied to two Leukemia cohorts to investigate relapse mechanisms. I will also discuss pros and cons that were found using different callers as well as strategies and R packages to analyse and explore time-course mutations using samples extracted from the same patient over the course of the treatment. I will conclude by showing an application to our cohort of Core Binding Factor Acute Myeloid Leukemia samples.

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