Children's Mercy
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.
Multiple studies are showing that long reads can deliver results where short reads can't, but many barriers remain on the road to the clinic.
Many labs have yet to make the switch from the GRCh37 reference genome to GRCh38, and new data and another new genome assembly suggests the decision may be complex.
Team Tracks Genetic Factors Linked to Severe COVID-19, Other Viral Infections in Children
At ACMG, researchers presented results from an ongoing effort using a growing sample collection to find genetic contributors to severe viral infections in children.
Pacific Biosciences, Children's Mercy, Microsoft Collaborate on Rare Genetic Disease Diagnostics
The organizations will apply PacBio's HiFi sequencing to a rare disease cohort whose genomes have not yet yielded causal variants by other methods.