Genzeva, a molecular genetic laboratory, has partnered with RYLTI to develop an innovative application of AI Knowledge Engineering and a biomimetic digital twin ecosystem for advanced genomic research. They utilized whole genome and clinical exome sequencing, phenotype-driven variant analysis, and RYLTI’s Knowledge Engineering Platform to identify DNA variants associated with a multifactorial disorder. This groundbreaking approach has the potential to expand the scope of discovery in genomic research and drug discovery.
Genzeva, a leading molecular genetic laboratory that performs whole genome and clinical exome sequencing for clinical diagnostics and research, has partnered with tech innovator RYLTI to develop an innovative groundbreaking application of AI Knowledge Engineering and use of a biomimetic digital twin ecosystem for advanced genomic research.
The companies collaborated on a study led by geneticist Dr. William G. Kearns, Co-founder, and Chief Scientific Officer of Genzeva, utilizing a breakthrough process employing whole genome or clinical exome sequencing, a phenotype-driven variant analysis, and the RYAILITI Knowledge Engineering (RKE) Platform. RYLTI’s methodology incorporates human intelligence without bias into the analytical workflow and leverages complex data from diverse sources in a way that RYLTI believes many traditional AI and Machine Learning technologies are not engineered to recognize.
Upon completion of sequencing of patient samples and matched controls using a NovaSeq 6000, a Dragan pipeline for secondary analysis, and QIAGEN’s Clinical Insight Interpret (QCII) platform to perform gene-disease association with phenotype-driven analysis, a digital twin ecosystem was created by uploading all patient metadata, medical history, pathology reports, and transcriptomics. The dynamically adaptive platform uses real-world methods and simulations, assigning varied rules to the data, and recalculating and recontextualizing results.
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The system’s multi-dimensional models and ability to reveal hidden “dark” data yielded a remarkable discovery. DNA variants were identified in nearly all patient samples, but not in matched controls in four genes classified as variants of unknown clinical significance (VUS). The findings suggest that all four DNA variants apparently play a role in the pathogenesis of the multifactorial disorder. One DNA variant appears to be a biomarker for the diagnosis of the disease, and two other DNA variants are controlled by the same gene enhancer, indicating a potential hotspot for genomic studies of the pathophysiology of this multifactorial disease.
“The study illustrates that this novel process and pioneering technology for genomic analyses can uncover hidden “dark data” with insights that may never have been achievable before. We feel this exciting new application may have far-reaching potential to expand the scope of discovery in research for any disease or treatments and play a significant role in drug discovery,” said Kearns.
“This breakthrough with GENZEVA comes at a very exciting time, not only in advanced genomic research but in other markets as “dark data” discoveries are being made,” said Peter Fiorillo, President and CEO of RYLTI.
RYLTI has engaged US Capital Global Partners LLC as RYLTI’s financial advisor.
Source: Bio Space
