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Exome/Genome Sequencing in Undiagnosed Syndromes

27 Jan 2023

Abstract excerpt

Exome sequencing (ES) and genome sequencing (GS) have radically transformed the diagnostic approach to undiagnosed rare/ultrarare Mendelian diseases. Next-generation sequencing (NGS), the technology integral for ES, GS, and most large (100+) gene panels, has enabled previously unimaginable diagnoses, changes in medical management, new treatments, and accurate reproductive risk assessments for patients, as well as...

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PMID: 36706750
DOI: 10.1146/annurev-med-042921-110721

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