- Pre-print publication from Levy, et al. describes the second phase of a multisite evaluation and validation of optical genome mapping (OGM) that is designed to measure the workflow’s accuracy and clinical utility compared to classical cytogenetic methods
- OGM data from 342 unique cases (419 datapoints) were analyzed and reported in the pre-print, including 123 samples from phase 1 of the study, which was reported in a pre-print publication in December 2022
- Phase 2 results show that OGM demonstrates comparable results to classical cytogenetic methods, with sensitivity of 99.2%, specificity of 100%, overall accuracy of 99.6% and overall concordance of 100%
- Phase 2 of the study also showed that for 215 out of 219 cases (98%) where at least two classical methods were required to meet the current standard of care (SOC) in prenatal constitutional genetic testing, a single OGM analysis was sufficient to meet the same standard. 59 out of 219 cases (27%) used three classical cytogenetic methods to meet the SOC and OGM was again sufficient with just a single assay
- A key conclusion of the authors is that OGM may serve as a stand-alone and promising alternative assay in prenatal diagnosis, distinct from classical cytogenetic methods, due to its performance and its ability to identify all classes of relevant structural variants (SVs) on a genome-wide basis and at high resolution
U.S. Manufacturing Index Likely To Ease Further To This Level In August, Here Are The Major Macro Issues For Tuesday
U.S. stocks closed sharply lower on Monday with Zoom Video Communications, Inc. (NASDAQ: ZM) reporting mixed quarterly results after the closing bell.
