exome sequencing
DNAgo, Oncologix Tech to Combine Companies, Broaden Clinical Genetic Testing
The combined company will continue DNAgo's operations, providing exome sequencing for rare genetic disease diagnosis.
The purchase of GeneDx from Opko Health will help Sema4 accelerate its push into whole-exome sequencing and grow in rare disease diagnostics.
Genomic Answers for Kids Team Releases Thousands of Genomes to Gain Insights Into Rare Diseases
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The Children's Mercy Research Institute is using exome sequencing, genome sequencing, and other methods to diagnose and study rare pediatric conditions in underserved patients.
Mayo Clinic, Personalis Ink Comprehensive Genomics Research Collaboration
Investigators intend to offer Personalis' comprehensive genomics testing to consenting patients for both clinical use and to aggregate data for ongoing research.
Blueprint Genetics to Analyze Biobank Samples for Rare Diseases in New Finnish Study
Researchers plan to identify and sequence the exomes of 3,000 individuals from the biobank who are likely to have one of a number of rare diseases.