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Gain powerful insights by partnering with our expert team, who are enabled by unmatched access to published genomic research, meticulously curated data, and innovative curation technology.
Custom Genomic Services
Variant Landscape
Design evidence-based inclusion criteria and CDx submissions with complete knowledge of the landscape of causative variants for your disease of interest
Patient Landscape
Strengthen your trial design with complete knowledge of published patients alongside their demographics, clinical presentation, and full genotype
Custom Knowledgebase
Work with us to design and develop a custom genetic knowledgebase that fits your needs, including, for example, target ID, risk factor analysis, indication/label expansion, and prevalence estimation
Consultation
We’re here to support you with commercial validation, regulatory submissions, data analysis/informatics, publications/posters, speaking engagements, and more
Our Offerings For Precision Therapeutics
Some of our Publications and Resources
The following publications highlight the impact of Genomenon’s custom genomic services in research and drug development. Whether conducting meta-analyses of biomedical literature to centralize and disseminate variant information or estimating the genetic prevalence of allele frequencies from population databases, our team of scientists and curators will partner with you every step of the way.
Estimation of ENPP1 Deficiency Prevalence
Chunn, L.M., Bissonnette, J., Heinrich, S.V. et al. Estimation of ENPP1 deficiency genetic prevalence using a comprehensive literature review and population databases. Orphanet J Rare Dis 17, 421 (2022).
Novel PHEX gene locus-specific database
Sarafrazi S., Daugherty S.C., Miller, N. et al. Novel PHEX gene locus-specific database: Comprehensive characterization of vast number of variants associated with X-linked hypophosphatemia (XLH). Human Mutation 43:143–157 (2021).
Regulatory support with Loxo@Lilly
Loxo@Lilly discusses how they partnered with Genomenon to respond to requests from the Japanese regulatory agency.
Meet Some of Our Precision Therapeutic Scientists
"As a rare disease patient myself, the fact I was able to curate variants in PIK3R1/PIK3CD to improve the diagnostic yield of APDS patients is extremely fulfilling."
"Enhancing research knowledge on Fabry disease through the submission of FDA verified pathogenic variants is not only beneficial to the rare disease community but gratifying in the ability to help patients and families by shedding light on the disorder."
“Working on pharma projects and being part of a team that helps reach greater goals is an extremely challenging yet rewarding experience as navigating through curation challenges to bring forth the most accurate data that might impact a patient's outcome.”
Find out how you can include the right genetic insights into your drug program.
