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•	Presented initial results from key clinical studies designed to evaluate the performance of Saphyr® against traditional cytogenetics methods at the European Human Genetics Conference. Several posters were presented, including:

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A poster from the team of Alex Hoischen, Ph.D. at Radboud University Medical Center in the Netherlands entitled: “Next generation cytogenetics in medical genetics with high-resolution optical mapping,” where Tuomo Mantere and colleagues described the comparison of Bionano optical mapping on Saphyr with a suite of traditional cytogenetic methods including fluorescence in situ hybridization (FISH), karyotyping and chromosomal microarray (CMA). Additionally, as part of a workshop held at the same conference, Dr. Hoischen provided an up to the minute report on the ongoing study, noting that roughly 20% of the hematologic malignancy cases in the study had been completed and that about 35% of the human genetic disease cases were complete. The authors concluded that Bionano optical mapping with Saphyr identified all clinically reported variants with variant allele fraction greater than 10% in patients tested for hematologic malignancies and similarly that all known aberrations were identified in patients tested for constitutional genetic disorders. The authors further reported that in many cases, the complex pathogenic variants identified by Saphyr proved to be more complex than had been previously known based on an understanding developed with lower resolution methods such as FISH, karyotyping and CMA. The finding of additional complexity implies the potential for Saphyr to be used to further stratify patients in the future, leading to better treatment decisions and patient outcomes.

◦	In another study, entitled: “Evaluation of the Bionano optical mapping technology as a replacement of conventional cytogenetics in a diagnostic setting,” Charlotte Keith and team from Western General Hospital in Edinburgh, Scotland, compared Bionano optical mapping to karyotyping and CMA on benchmark samples, including those containing

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In an oral presentation, Lisanne Vervoort from the Katholieke Universiteit Leuven, Belgium presented a study on DiGeorge syndrome, a syndrome typically affecting infants with symptoms including heart defects, developmental delay and frequent infections. The Leuven team has been able to decode the complex, repetitive region of the genome that is responsible for the disease using Bionano optical mapping as part of a large collaboration. Furthermore, the authors leveraged data from a large population study of 154 human samples from different ethnic groups to determine the ethnic differences in the frequency of these specific genomic structures to potentially explain ethnic variation in the disease.

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In another study, Laila El-Khattabi, Pharm.D., Ph.D. from Hospital Cochin of 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 initiative. Several balanced translocations detected by Saphyr had been missed by whole genome sequencing analysis. Saphyr showed its ability to detect the clinically relevant variants that otherwise would need to be sought after by a combination of less efficient traditional techniques, such as karyotyping and chromosomal microarrays.

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Appointed Kristiina Vuori, M.D., Ph.D., to its board of directors. Dr. Vuori is recognized for delineating molecular pathways that regulate cancer cell survival, motility, metastasis and drug responsiveness, and her molecular characterization of prolyl hydroxylase helped to enable the formation of FibroGen (NASDAQ: FGEN). Dr. Vuori is President of Sanford Burnham Prebys Medical Discovery Institute (SBP) and serves as Professor of the National Cancer Institute (NCI)-designated Cancer Center at SBP.

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•	North America revenue decreased by $0.1 million, or 9%;

•	EMEIA revenue decreased by $0.5 million, or 51%; and

•	Asia Pacific revenue decreased by $0.6 million, or 66%.

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