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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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Clinical sequencing: From raw data to diagnosis with lifetime value

S M Caspar1, N Dubacher1, A M Kopps1

  • 1Center for Cardiovascular Genetics and Gene Diagnostics, Foundation for People with Rare Diseases, Schlieren-Zurich, Switzerland.

Clinical Genetics
|December 6, 2017
PubMed

Keywords:
WESWGSgenetic counselinggenetic testinglong-read sequencingnext-generation sequencingpharmacogeneticsshort-read sequencingtargeted gene panels

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