At ESHG 2019, Dr. Laila El-Khattabi, PharmD, PhD, from Hôpital Cochin – Paris Descartes University, presented results where Saphyr detected a wide variety of balanced and unbalanced chromosomal abnormalities that occur in developmental disorders such as autism and developmental delay, and reproductive disorders such as male infertility and recurrent pregnancy loss, as part of a 30 sample clinical validation study. Of the 27 samples run on Saphyr so far, an initial analysis detected the clinically relevant variants in 25 out of 27 samples. Of the two that were missed, one included a translocation that other molecular methods had not been able to detect either because of its proximity to the centromere, and one complex aberration that was partially but not fully resolved by Bionano alone. Several balanced translocations detected by Bionano had been missed by whole genome sequencing analysis. The clinically relevant variants detected by Bionano had previously been identified by a combination of karyotype and chromosomal microarray in a clinical setting, and whole genome sequencing in a research setting.
Watch her presentation in the recording above, and make sure not to miss Alex Hoischen from Radboud UMC in Nijmegen comparing Bionano with traditional cytogenetics in leukemias: “Optical mapping enables next generation cytogenetics— applications in medical genetics”. We also recorded Bionano’s Sven Bocklandt’s talk “New Developments in Long Read Optical Mapping Enable Novel Applications for Cancer and Genetic Disease”. All of the Bionano presentations at ESHG are discussed here.