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Genome sequencing increases diagnostic yield in clinically diagnosed Alagille syndrome patients with previously negative test results
PURPOSE: Detection of all major classes of genomic variants in a single test would decrease cost and increase the efficiency of genomic diagnostics. Genome sequencing (GS) has the potential to provide this level of comprehensive detection. We sought to demonstrate the utility of GS in the molecular...
| Autores principales: | , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Nature Publishing Group US
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7862053/ https://www.ncbi.nlm.nih.gov/pubmed/33077891 http://dx.doi.org/10.1038/s41436-020-00989-8 |