Analysis Pipelines and a Platform Solution for Next‐Generation Sequencing Data

Since the emergence of big data and massive genomic sequencing technologies, advancements in clinical practice have been hindered by data processing limitations. The workflows and pipelines involved in the detection of variants and their interpretation are complex. In addition, there is a diversity of existing tools and algorithms, and the computational processing load is high. This scenario calls for the development of comprehensive genomic analysis platforms capable of relieving clinicians' workloads so that patients can be informed of their results immediately. This chapter reviews massive genomic data analysis pipelines for both short-read and long-read technologies. A description is provided of the state of the art of the main tools that have been developed for each stage. Moreover, the importance of artificial intelligence (AI) in the development of those tools is also highlighted. Last, the chapter presents the end-to-end genomic analysis web platform called DeepNGS ( deepngs.eu ), as well as its main features and applications.