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Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases

25 Jun 2015

Abstract excerpt

BACKGROUND: To understand the contribution of Mendelian mutations to the burden of undiagnosed diseases that are suspected to be genetic in origin, we developed a next-generation sequencing-based multiplexing assay that encompasses the ~3000 known Mendelian genes. This assay, which we term the Mendeliome, comprises 13 gene panels based on clinical themes, covering the spectrum of pediatric and adult clinical...

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PMID: 26112015
DOI: 10.1186/s13059-015-0693-2

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