At the MGI Technology and Application Conference of Genomics (TACG) during ICG-13, Dr. Fuman Jiang of JingKe Bio presented on the application of high-throughput sequencing for genetic disease detection using the MGISEQ-2000 platform.
Dr. Jiang highlighted the use of Whole Exome Sequencing (WES) in clinical diagnosis through two illustrative cases.
In the first case, a one-and-a-half-year-old boy presenting with growth failure, dyskinesia, low immunity, and scoliosis was sequenced using both MGISEQ-2000 with MGI Exome reagents and Illumina NovaSeq with IDT xGen Exome panel. Results were consistent across platforms, with MGISEQ-2000 demonstrating a lower duplicate read rate. Two pathogenic heterozygous mutations, c.3627dupT (p.K1210*) and c.1297G>T (p.E433*), were detected in the ERCC6 gene, each inherited from a parent.
In the second case, a six-month-old boy with post-BCG pneumonia, lymphedema, and other symptoms underwent WES on MGISEQ-2000 and NovaSeq. Both platforms produced consistent results, detecting a pathogenic nonsense mutation c.388C>T (p.R130*) in the CYBB gene, causing premature termination of protein synthesis.
Dr. Jiang concluded that MGISEQ-2000 provides a reliable and accurate solution for genetic disease diagnosis. She emphasised that as sequencing technologies continue to advance, they will play an increasingly critical role in clinical applications.
