Disease-targeted sequencing: a cornerstone in the clinic

作者: Heidi L. Rehm

DOI: 10.1038/NRG3463

关键词: Computational biologyHuman genomeDiseaseDiagnostic evaluationBiologyGenomicsBioinformaticsHuman geneticsExomeDisease geneCornerstone

摘要: With the declining cost of sequencing and ongoing discovery disease genes, it is now possible to examine hundreds genes in a single disease-targeted test. Although exome- genome-sequencing approaches are beginning compete, testing retains certain advantages still holds firm place diagnostic evaluation. Here I current state clinical evaluate benefits challenges incorporating tests into patient care.

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