Clinical Exome Sequencing analysis in VACTERL patient

Congenital anomalies are one of the strongest risk factors for childhood cancer. We performed a clinical exome analysis in an infant affected by VACTERL association to identify potential biomarkers that may be helpful for preventing malignancy risk or other chronic processes.The clinical exome analysis was conducted in triplicate. The gene panel TruSight One was retrieved by Illumina and sequenced on MiSeq platform as paired end using reads of 150 nucleotides in length.Our analysis is focused on detection of all rare variants and genes that may modify the physiological phenotype when simultaneously altered.