Anne Kristine Schack from the University of Copenhagen and gMendel, Denmark spoke at London Calling 2022 about “A novel assay based on Oxford Nanopore technology for potential mass screening of Klinefelter syndrome.” They explained that Klinefelter Syndrome is a genetic disorder in which there is an additional X chromosome and it affects one in 500 males! It is a genetic disorder that happens during gametogenesis and produces a variety of clinical features.: infertility and mental health issues. Diagnosis can take seven years! However, as Schack explained, screening is not part of typical screening systems. As part of the gMendel team, they developed an assay to detect Klinefelter Syndrome. They came up with a wet lab assay that starts with a buccal swab, DNA extraction, and library preparation for Nanopore sequencing. The process includes PCR and barcoding to multiplex samples. Data analysis is based on machine learning and trained on various different samples. The experimental setup consisted of 96 subjects with four technical replicates. A healthy male control group and a Klinefelter group were analyzed along with control F and healthy male… and a fourth group with people with other genetic variations. They used the results of the analyses to perform statistical testing. The system is also able to detect mosaic samples. They concluded that the system uses real-time detection of chromosomal aberrations thanks to modeling and is able to detect Klinefelter syndrome successfully in a variety of samples. They called this “Phivea” real-time detection. I am now curious about the details of the wet lab procedure and how many samples they were able to multiplex.
