exome sequencing
Genomic Approaches Boost Rare Disease Diagnoses in Middle Eastern Patient Population
Findings from 1,000 rare disease cases assessed at Al Jalila Children's Specialty Hospital in Dubai highlight the importance of access to genomics-based diagnostic approaches.
Geisinger MyCode Study Reveals Prevalence of Somatic Variants Linked to Rare Syndrome
Using exome sequence data for more than 163,000 Geisinger MyCode participants, researchers looked for variants in UBA1 that have been linked to VEXAS syndrome.
Sequencing Study Uncovers Genes Under Positive Selection in Large, Long-Lived Sea Creatures
Sequences from a range of cetacean species suggest the aquatic environment has exerted selective pressure genes involved in growth, cancer suppression, and other features.
Venous Thromboembolism Risk Rise Reported in Individuals With Extra Sex Chromosomes
Researchers saw a significant uptick in VTE risk in individuals with supernumerary sex chromosome aneuploidies in both the Geisinger MyCode and UK Biobank cohorts.
Rebranded GeneDx Bets Future on Whole-Exome, Whole-Genome Sequencing in Pediatric Rare Disease
Premium
After dropping underdeveloped Sema4 business lines but emphasizing the Centrellis informatics platform, the new GeneDx expects to reach profitability by 2025.