Detection of a Deletion in the ATXN3 gene in CML Patients Using Exome Sequencing

Here, we have employed whole exome sequencing technique and comparative bioinformatics tool to find such markers. General procedure was used to analyze the data. Although we have identified several novel SNPs and InDels variation in the genome of CML patients, we have only selected those InDels variations that could be easily identified by simple size fractionation following PCR reactions, with no need for sequencing follow up. After analysis of exome sequencing data from a couple of patients we have found that FAM46A, NOTCH4 and ATXN3 harbor insertion deletion (InDels) that might be involved in CML. Next, we have assessed the presence of these variations in CML patients and compared the results with those obtained from 20 healthy samples. Interestingly, we found that the InDels in ATXN3 gene strongly correlate with cancer status. Consequently, we propose that this variation might be useful for detection of CML at early stages.