Bioinformatics Seminars

Bioinformatics Seminar

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

6 March 2018

Challenges in combining mixed tumour-normal RNA-Seq datasets to study markers of relapse in Core-Binding Factor Acute Myeloid Leukemia

Anna Quaglieri
WEHI Bioinformatics

Core-Binding Factor Acute Myeloid Leukemia (CBF-AML) affects about 15% of the AML patients. Even though 90% of patients usually achieve complete remission, around 40% of these relapses.
In the last two years we have assembled a large collection of diagnostic CBF-AML RNA-Seq samples from different studies around the world and we now hope to discover early markers of relapse by looking at mutations and gene expression differences at diagnosis. In this talk I will discuss the challenges that we are facing in combining RNA-Seq samples from different labs, tissues and with different amount of tumour content. I will show that by exploiting biological and technical replicates we are able to account for this variability in datasets where the information is not provided. I will conclude the talk by showing the first results in the detection of early marker genes for relapse with the combined data.

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