Pediatric Genomic Medicine Services
Pediatric Genomic Medicine Services

Our team provides genome, computation, and analysis capabilities that support research programs in Pediatrics, Neonatology, Hematology/Oncology, Fetal Health, Pharmacogenetics, and Personalized Medicine. We provide large-scale human DNA, RNA and methylome sequencing and analysis to assist in gene discovery, diagnosis and research for pediatric genetic diseases.

Whole Genome Sequencing (WGS)

We offer WGS clinically to identify disease-causing and likely disease-causing variants. WGS may find variants in on-coding regions which are not covered by exome sequencing.
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Exome Sequencing

We offer exome sequencing to find a molecular diagnosis in families with children who have had an extensive negative work-up for a genetic disease. We also use exome sequencing to identify novel disease genes. 
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Genome Research

Many aspects of our research initiatives involve collaborating with other top-notch research institutions. Our collective goal is to develop new methods for better genome studies.
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Genome Analysis Software Development

We develop software for genome scale clinical sequencing applications.

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