Children's Mercy
With rapid nanopore whole-genome sequencing and targeted analysis, researchers can determine a newborn's genetic risk for a disorder in three hours.
Children's Mercy Test Drives Addition of Methylation Calls on Pacific Biosciences' Long-Read WGS
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Pacific Biosciences' HiFi sequencing protocol now includes 5mC methylation calls for every genome. What will researchers discover with it?
The GA4K program, run by Children's Mercy Research Institute, aims to build a testing framework for pediatric patients with undiagnosed rare disease.
Repeat Expansion Disease Diagnosis From Targeted Long Reads Shows Potential for Clinical Use
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Australian researchers have developed a nanopore sequencing test that can detect more than 50 neurological and neuromuscular diseases caused by STR expansions.
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.