Next-generation variant exon screening: Moving forward in routine genetic disease investigations
Purpose: Patients with genetic diseases often seek testing to reach a firm diagnosis. Based on clinical phenotypes, exome sequencing for small-nucleotide variations or array-based methods for copy-number variations (CNVs) are commonly offered to identify the underlying causative genetic variants. In...
| Main Authors: | , , , , , |
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| Formato: | Artigo |
| Idioma: | English |
| Publicado: |
Elsevier
2024-01-01
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| Series: | Genetics in Medicine Open |
| Subjects: | |
| Acceso en liña: | http://www.sciencedirect.com/science/article/pii/S2949774424009622 |