Development and Validation of Clinical Whole-Exome and Whole-Genome Sequencing for Detection of Germline Variants in Inherited Disease.
Context.--With the decrease in the cost of sequencing, the clinical testing paradigm has shifted from single gene to gene panel and now whole-exome and whole-genome sequencing. Clinical laboratories are rapidly implementing next-generation sequencing--based whole-exome and whole-genome sequencing. B...
| Publicado en: | Archives of Pathology & Laboratory Medicine Vol. 141; no. 6; pp. 798 - 806 |
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| Autores principales: | , , , , , |
| Formato: | tables/charts Journal Article |
| Publicado: |
College of American Pathologists
Jun2017
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| Acceso en línea: | Ver este registro en EBSCOhost |