Exome sequencing data management and variant filtering in azoospermic and testicular germ cell tumor patients

Non-obstructive azoospermia (NOA) and Testicular Germ Cell Tumors (TGCT) are pathological conditions affecting men in their reproductive age. NOA is the absence of spermatozoa in the ejaculate. The etiology of NOA remains unknown in about 40% of cases and it is likely that yet unknown genetic factors are playing a major role [1]. In the literature, an increased susceptibility of NOA subjects to develop TGCT and other malignant tumors has been reported [2]. With the advent of high throughput sequencing platforms the exome analysis of these patients may allow the identification of pathogenic variants in genes implicated in NOA and TGCT [3]. However, the large amount of data generated by variant calling algorithms can make variant filtering and prioritization a difficult and time-consuming task particularly in case of manual management. To address this issue an automated procedure has been proposed.