functional genomics
The firm's test for Lynch Syndrome determines the presence of variants in the DNA mismatch repair pathway.
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.
Genomenon, Nostos Genomics to Integrate Technologies to Improve Rare Disease Dx
Genomenon will embed its Mastermind genomic search engine into the AI-driven Nostos AIon variant interpretation platform to power clinical decision support.
The researchers aimed to develop a test that could help clinicians determine whether a patient would respond to therapy, before the onset of treatment.
At the ACMG meeting, Cynthia Morton said that several projects, including her team’s SEQaBOO study, are exploring the utility of genomic testing in newborn hearing screening.