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.