DR-121 Refining the candidate identification of germline and somatic variation with a functional role in metastatic cancers

Priestley et al. (2019), the study introducing the Hartwig Medical Foundation data collection, used several state-of-the-art analysis tools for calling different types of somatic variation. As a result, they provided a number of new candidates of germline and somatic variation with a potential functional role in metastatic cancers. We have recently developed a new variant caller that provides a unified probabilistic framework for calling different types of variation from short substitutions and indels up to large-scale copy-number events. With it, we would like to further refine variation identification to aid in prioritization for functional testing.

Johannes Koster University Hospital Essen Germany