The University of Adelaide
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RaScALL targets sequences

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posted on 2022-06-17, 00:46 authored by Jacqueline RehnJacqueline Rehn
Target sequences representing gene fusion breakpoints or regions surrounding somatic missense mutations of clinical relevance in acute lymphoblastic leukaemia. These targets can be utilised for targeted variant detection from RNA-seq data.

Targets were generated with RaScALL, an implementation of jellyfish and km for rapid screening of RNA-seq data to identify genetic alterations of clinical significance.

This resource contains two sets of target sequences:

Target set A (setA) contains target sequences for detection of 27 gene fusions, 16 single nucleotide variants, 3 intragenic deletions of IKZF1 and DUX4 expression which is indicative of DUX4-rearrangment.

Target set B (setB) contains all targets from set A along with target sequences for detection of an additional gene fusions, SNVs and focal gene deletions.


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