NIH Undiagnosed Disease Program Researcher Outlines Strategy for Finding Rare Mutations in Exomes at ACMG | GenomeWeb

By Andrea Anderson

CHARLOTTE, NC (GenomeWeb News) – Researchers involved with the National Institutes of Health Undiagnosed Diseases Program are using an exome sequence analysis approach that they call "extreme novel filtering" to find disease-associated mutations behind conditions represented by just one or a few patients.

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