Same-day genomic and epigenomic diagnosis of brain tumors using real-time nanopore sequencing.

ABSTRACT: Molecular classification of cancer has entered clinical routine to inform diagnosis, prognosis, and treatment decisions. At the same time, new tumor entities have been identified that cannot be defined histologically. For central nervous system tumors, the current World Health Organization classification explicitly demands molecular testing, e.g., for 1p/19q-codeletion or IDH mutations, to make an integrated histomolecular diagnosis. However, a plethora of sophisticated technologies is currently needed to assess different genomic and epigenomic alterations and turnaround times are in the range of weeks, which makes standardized and widespread implementation difficult and hinders timely decision making. Here, we explored the potential of a pocket-size nanopore sequencing device for multimod

SUBMITTER: Euskirchen P 

PROVIDER: S-EPMC5645447 | biostudies-literature | 2017 Nov

REPOSITORIES: biostudies-literature