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Clinical Exome Reanalysis: Current Practice and Beyond
Novel gene-disease discoveries, rapid advancements in technology, and improved bioinformatics tools all have the potential to yield additional molecular diagnoses through the reanalysis of exome sequencing data. Collaborations between clinical laboratories, ordering physicians, and researchers are a...
Autores principales: | Ji, Jianling, Leung, Marco L., Baker, Samuel, Deignan, Joshua L., Santani, Avni |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Springer International Publishing
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8410709/ https://www.ncbi.nlm.nih.gov/pubmed/34283395 http://dx.doi.org/10.1007/s40291-021-00541-7 |
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