Clinical Applications of a Rapid Real-Time Analysis System for Whole Genome/Exome Sequencing

With the deciphering of the human genome and rapid advances in NGS technology, whole genome sequencing has become an affordable examination for most people and may even become a clinical routine genetic test in the near future. Therefore, how to quickly process and analyse the huge amount of data generated by whole genome sequencing has now become an important issue. Our centre collaborated with a bioinformatics service company to establish a "real-time whole genome sequencing analysis system“ by combining gene analysis technology, cloud computing, big data and artificial intelligence technology. This system can instantly analyse genetic diseases at the clinic, obtaining results within one minute. The platform has a user-friendly interface and can be optimised through user feedback. In addition to disease diagnosis, this system has other analytical functions including constitution, pharmacogenetics, proactive, HLA-typing analysis etc. Currently, this collaboration has also established a genomic AI analysis system (strata finder) for risk assessment of complex diseases. According to preliminary data, the strata finder can accurately predict whether the patient may suffer from asthma, AMI and stroke using the patient’s WGS data, with an accuracy as high as 96% or more. It is anticipated that this system will make it easier for doctors to obtain and use the analysis of WES/WGS, thereby promoting the development of precision medicine.