生物信息学的应用在过去20年中彻底改变了医学实践。从早期揭示癌症亚型的研究到由癌症基因组图谱计划带头的广泛努力，利用生物信息学策略分析高维数据为疾病的分子基础提供了前所未有的洞察力。除了鉴定疾病亚型（可用于风险分层）外，信息学分析还促进了新的风险因素和疾病驱动因素的发现，疾病进展和治疗反应的生物标志物的确定，以及药物再利用或重新定位的可能性；此外，生物信息学还引导研究走向精确和个体化医学。特定的计算方法的实施，如人工智能、机器学习和分子分型，由于成本、对临床工作流程的干扰以及需要在独立患者群中进行前瞻性验证的需要，尚未在泌尿学临床实践中大规模推广。解决这些挑战可能加速生物信息学日常融入临床环境的整合。© 2023年 Springer Nature Limited。

The application of bioinformatics has revolutionized the practice of medicine in the past 20 years. From early studies that uncovered subtypes of cancer to broad efforts spearheaded by the Cancer Genome Atlas initiative, the use of bioinformatics strategies to analyse high-dimensional data has provided unprecedented insights into the molecular basis of disease. In addition to the identification of disease subtypes - which enables risk stratification - informatics analysis has facilitated the identification of novel risk factors and drivers of disease, biomarkers of progression and treatment response, as well as possibilities for drug repurposing or repositioning; moreover, bioinformatics has guided research towards precision and personalized medicine. Implementation of specific computational approaches such as artificial intelligence, machine learning and molecular subtyping has yet to become widespread in urology clinical practice for reasons of cost, disruption of clinical workflow and need for prospective validation of informatics approaches in independent patient cohorts. Solving these challenges might accelerate routine integration of bioinformatics into clinical settings.© 2023. Springer Nature Limited.