Genedx LLC partnered with Illumina Inc. to test whether Illumina’s constellation map read technology could shed light on hard-to-detect variants that appear in rare diseases. Constellation met or exceeded the ability of other sequencing methods to detect variants implicated in multiple disorders and worked across a range of sample types, a study presented at the American Society for Human Genetics (ASHG) Annual Meeting in Boston on Oct. 15 found.
BioWorld MedTech Clinical Neonatal/pediatrics Diagnostics U.S.