NEW YORK--(BUSINESS WIRE)--Recombine, Inc., a clinical genetic testing company dedicated to helping patients and providers make informed healthcare decisions, today announced that initial validation data for their expanded carrier screening platform will be presented at the American College of Medical Genetics and Genomics (ACMG) conference, to be held on March 24th through 28th in Salt Lake City, Utah.
The initial validation data will be presented on Friday, March 27th from 10:30 am to 12 noon in poster format and is entitled “Utilizing the 1,000 Genomes Project for Validation of an Array-Based Genotyping Platform: Clinical and Bioinformatics Benefits”.
“As carrier screening platforms expand to include an increasing number of rare diseases and mutations, previously relied upon samples are no longer sufficient and limit accurate validation,” said Alexander Bisignano, Chief Executive Officer at Recombine, Inc. “Our data demonstrate a novel validation strategy that leverages genomic databases and has important implications for the future of multiplex panel validations.”
Three additional posters highlighting the company’s continued research into the clinical benefits and challenges of expanded carrier screening will be presented at the conference. “Challenges in Expanded Carrier Screening: Determining Accurate Detection Rates & Residual Carrier Risks,” “Going Beyond the Guidelines: A Call for Expanded Carrier Screening Based Upon an Analysis of Greater Than 4000 Clinical Samples,” and “Diversity Within: Genetic Heterogeneity in Individuals of Latin American Ancestry,” will all be presented Friday, March 27th from 10:30 am to 12 noon.
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 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.