rare disease
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.
Remote Visualization of Local Genome Alignments Aids Pathogenic Variant Evaluation for Rare Disease
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Researchers at Barcelona's CNAG-CRG are assessing variants in rare disease patients by linking them to alignments of "slices" of genomes and exomes in the European Genome-Phenome Archive.
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.
FinnGen Study Demonstrates Value of Analyzing Isolated Populations
Investigators from the University of Helsinki and the Broad Institute led the study, which looked at the effects of 44,370 variants on more than 1,900 diseases in participants.
Rebranded GeneDx Bets Future on Whole-Exome, Whole-Genome Sequencing in Pediatric Rare Disease
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After dropping underdeveloped Sema4 business lines but emphasizing the Centrellis informatics platform, the new GeneDx expects to reach profitability by 2025.