作者: Thierry Soussi
DOI: 10.1002/HUMU.22518
关键词:
摘要: Locus-specific databases (LSDBs) are curated compilations of sequence variants in genes associated with disease and have been invaluable tools for both basic clinical research. These contain extensive information provided by the literature benefit from manual curation experts. Cancer genome sequencing projects generated an explosion data that stored directly centralized databases, thus possibly alleviating need to develop independent LSDBs. A single cancer contains several thousand somatic mutations. However, only a handful these mutations truly oncogenic identifying them remains challenge. we can expect this increase development novel biocuration algorithms will ultimately result more accurate release stable sets data. Using evolution content TP53 LSDB as paradigm, it is possible draw model gene mutation analysis covering initial descriptions, accumulation organization knowledge use practice. It also make assumptions on future LSDBs how could change accessibility data, interfaces optimized different types users adapted specificity each region genome, coding or noncoding, tumor development.