| Literature DB >> 34170385 |
Ulrich Lehmann1, Andreas Jung2.
Abstract
The enormous increase in sequencing capacity due to the development of next generation sequencing technologies opens up new opportunities in the fields of histopathology, research, and diagnostics, but also poses huge challenges.The identification of genomic aberrations (point mutations, small insertions and deletions, fusion transcripts, and tumor mutation burden (TMB)) have already become a reliable part of routine molecular diagnostics. This will be supplemented by additional applications, namely gene amplifications, microsatellite instability, genomic signatures like homologous recombination deficiency (HRD), mRNA expression patterns, B‑ and T‑cell clonality, and DNA methylation. Challenges in preanalytics and the evaluation of assay sensitivity and specificity as well as proper curation of identified aberrations, which requires a new type of specialist, are presented and discussed.Entities:
Keywords: DNA modifications; Gene amplification; High-throughput nucleotide sequencing; Mutation signatures; mRNA expression patterns
Year: 2021 PMID: 34170385 DOI: 10.1007/s00292-021-00953-6
Source DB: PubMed Journal: Pathologe ISSN: 0172-8113 Impact factor: 1.011