Proteogenomics: Key Driver for Clinical Discovery and Personalized Medicine

Ruggero Barbieri, Victor Guryev, Corry-Anke Brandsma, Frank Suits, Rainer Bischoff, Peter Horvatovich*

*Bijbehorende auteur voor dit werk

Onderzoeksoutput: ChapterAcademic

10 Citaten (Scopus)


Proteogenomics is a multi-omics research field that has the aim to efficiently integrate genomics, transcriptomics and proteomics. With this approach it is possible to identify new patient-specific proteoforms that may have implications in disease development, specifically in cancer. Understanding the impact of a large number of mutations detected at the genomics level is needed to assess the effects at the proteome level. Proteogenomics data integration would help in identifying molecular changes that are persistent across multiple molecular layers and enable better interpretation of molecular mechanisms of disease, such as the causal relationship between single nucleotide polymorphisms (SNPs) and the expression of transcripts and translation of proteins compared to mainstream proteomics approaches. Identifying patient-specific protein forms and getting a better picture of molecular mechanisms of disease opens the avenue for precision and personalized medicine. Proteogenomics is, however, a challenging interdisciplinary science that requires the understanding of sample preparation, data acquisition and processing for genomics, transcriptomics and proteomics. This chapter aims to guide the reader through the technology and bioinformatics aspects of these multi-omics approaches, illustrated with proteogenomics applications having clinical or biological relevance.

Originele taal-2English
SubtitelAdvances in Experimental Medicine and Biology
RedacteurenA Vegvari
Aantal pagina's27
ISBN van elektronische versie978-3-319-42316-6
ISBN van geprinte versie978-3-319-42314-2
StatusPublished - 30-sep-2016

Publicatie series

NaamAdvances in Experimental Medicine and Biology
ISSN van geprinte versie0065-2598

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