Premium
Locus‐Specific Databases in Cancer: What Future in a Post‐Genomic Era? The TP 53 LSDB paradigm
Author(s) -
Soussi Thierry
Publication year - 2014
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.22518
Subject(s) - biology , genome , locus (genetics) , genomics , data curation , gene , computational biology , database , coding (social sciences) , biological database , genetics , data science , computer science , statistics , mathematics
Locus‐specific databases ( LSDB s) are curated compilations of sequence variants in genes associated with disease and have been invaluable tools for both basic and clinical research. These databases contain extensive information provided by the literature and benefit from manual curation by experts. Cancer genome sequencing projects have generated an explosion of data that are stored directly in centralized databases, thus possibly alleviating the need to develop independent LSDB s. A single cancer genome contains several thousand somatic mutations. However, only a handful of these mutations are truly oncogenic and identifying them remains a challenge. However, we can expect that this increase in data and the development of novel biocuration algorithms will ultimately result in more accurate curation and the release of stable sets of data. Using the evolution and content of the TP 53 LSDB as a paradigm, it is possible to draw a model of gene mutation analysis covering initial descriptions, the accumulation and organization of knowledge in databases, and the use of this knowledge in clinical practice. It is also possible to make several assumptions on the future of LSDB s and how centralized databases could change the accessibility of data, with interfaces optimized for different types of users and adapted to the specificity of each region of the genome, coding or noncoding, associated with tumor development.