Publication

Proteogenomics: Key Driver for Clinical Discovery and Personalized Medicine

Barbieri, R., Guryev, V., Brandsma, C-A., Suits, F., Bischoff, R. & Horvatovich, P., 30-Sep-2016, Proteogenomics: Advances in Experimental Medicine and Biology. Vegvari, A. (ed.). Springer, Vol. 926. p. 21-47 27 p. (Advances in Experimental Medicine and Biology; vol. 926).

Research output: Chapter in Book/Report/Conference proceedingChapterAcademic

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.

Original languageEnglish
Title of host publicationProteogenomics
Subtitle of host publicationAdvances in Experimental Medicine and Biology
EditorsA Vegvari
PublisherSpringer
Pages21-47
Number of pages27
Volume926
ISBN (Electronic)978-3-319-42316-6
ISBN (Print)978-3-319-42314-2
Publication statusPublished - 30-Sep-2016

Publication series

NameAdvances in Experimental Medicine and Biology
PublisherSPRINGER INT PUBLISHING AG
Volume926
ISSN (Print)0065-2598

    Keywords

  • Genomics, Proteomics, Mass spectrometry, Proteogenomics, DNA/RNA next generation sequencing, SPECTROMETRY-BASED PROTEOMICS, TANDEM MASS-SPECTROMETRY, DATABASE SEARCH TOOL, OPEN SOURCE SOFTWARE, ACQUISITION MS DATA, RNA-SEQ DATA, PEPTIDE IDENTIFICATION, POSTTRANSLATIONAL MODIFICATIONS, PROTEIN QUANTIFICATION, STATISTICAL-MODEL

ID: 44379440