Emory, CHOP, Harvard to Develop Medical Exome for Complete Coverage of 5K Disease-associated Genes | GenomeWeb

Despite an increasing number of clinical laboratories now offering diagnostic exome sequencing, commercial exome kits still have a number of holes in them and miss important regions even in medically relevant genes.

To address this problem, researchers from Emory Genetics Laboratory, Children's Hospital of Philadelphia, and Harvard's Laboratory of Molecular Medicine are developing a custom-designed kit to ensure complete coverage of around 5,000 medically relevant genes, Clinical Sequencing News has learned.

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