RaScALL targets sequences

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.

该数据集旨在收录代表急性淋巴细胞白血病中临床相关基因融合断裂点或体细胞错义突变的靶序列。这些靶序列可被用于从RNA测序数据中实现针对变异体的靶向检测。靶序列由RaScALL生成，该工具为jellyfish和km的快速筛选RNA测序数据的实现，旨在识别具有临床意义的遗传变异。本资源包含两套靶序列集合：目标集合A（setA）包含检测27个基因融合、16个单核苷酸变异以及3个IKZF1和DUX4内基因删除的靶序列，这些删除与DUX4重排有关；目标集合B（setB）则包含集合A中的所有靶序列，并额外纳入了检测额外基因融合、单核苷酸变异和局灶性基因删除的靶序列。