NEW YORK--(BUSINESS WIRE)--Recombine Inc., a clinical genetic testing company dedicated to helping patients and providers make informed healthcare decisions, today announced the publication of validation data for their expanded carrier screening platform in the journal Genetics in Medicine.
The paper, entitled “Validation of a Multiplex Genotyping Platform Using a Novel Genomic Database Approach,” establishes the high sensitivity, specificity, and accuracy of the company’s genotyping platform. Validation samples were obtained from two biorepositories, the Subcollection of Heritable Diseases and the 1000 Genomes Project. The study measured greater than 12,000 observations, including 246 true positives and 12,147 true negatives, which enabled validation of 133 unique mutations.
Additionally, the data demonstrates a novel use of the 1000 Genomes Project genomic database for validation of such a platform. Previous validation studies have solely relied on samples obtained from the Subcollection of Heritable Diseases, or used synthesized plasmids. These resources provide only a limited number of samples. With multiplex platforms now designed to detect an increasing number of rare diseases and mutations, limiting validation strategy to previous methods can affect the integrity of genotyping assays. The data highlights a novel method of panel validation, with important implications for the future use of genomic databases.
“The sequencing approach of the 1000 Genomes Project provides an extensive amount of information with which we can validate many more genotype observations per sample ”, said Alexander Bisignano, Chief Executive Officer at Recombine, Inc. “This allows for a more accurate calculation of specificity.”
Currently offered carrier screening panels vary in regards to included diseases and technological platform. “For clinicians, the decision of which panel to offer their patients can be challenging” said study lead and Senior Bioinformatics Specialist Charlotte Rivera. “Ultimately, accurate validation data for the platform will provide physicians with greater confidence in platform and panel selection.”
Recombine is a clinical genetic testing company dedicated to helping patients and providers make informed decisions based on comprehensive and clinically actionable genetic testing results and in-depth genetic counseling. Recombine joins experts in genetics, fertility, and computer science brought together with one goal in mind: to improve health outcomes with personalized genomic testing. CarrierMap is Recombine's expanded carrier screening platform for over 250 genetic diseases designed for patients and gamete donors of all ethnicities. To learn how Recombine is leveraging the unprecedented power of advanced technologies, visit www.recombine.com and follow @Recombine.