Á lódáil...
Whole-Exome Sequencing in the Clinic: Lessons from Six Consecutive Cases from the Clinician's Perspective
Whole-exome sequencing (WES) is being used clinically to diagnose rare Mendelian disorders, especially when standard tests have failed. The diagnostic yield from WES is reported to be ∼15-30%; however, data regarding the clinical utility and interpretative challenges from the clinician's perspe...
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| Foilsithe in: | Mol Syndromol |
|---|---|
| Main Authors: | , , , , |
| Formáid: | Artigo |
| Teanga: | Inglês |
| Foilsithe: |
S. Karger AG
2015
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| Ábhair: | |
| Rochtain Ar Líne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4369115/ https://ncbi.nlm.nih.gov/pubmed/25852444 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000371598 |
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