Genome and exome sequencing in the clinic: unbiased genomic approaches with a high diagnostic yield.

Abstract

For the reasons discussed here, we think whole-genome- or exome-based approaches are currently most suited for diagnostic implementation in genetically heterogeneous diseases, initially to complement and later to replace Sanger sequencing, qPCR and genomic microarrays. Patients do need to be counseled for the possibility of receiving medically relevant… (More)
DOI: 10.2217/pgs.12.23

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Cite this paper

@article{Nelen2012GenomeAE, title={Genome and exome sequencing in the clinic: unbiased genomic approaches with a high diagnostic yield.}, author={Marcel R. Nelen and Joris A. Veltman}, journal={Pharmacogenomics}, year={2012}, volume={13 5}, pages={511-4} }