Test development, optimization and validation of a WGS pipeline for genetic disorders
Abstract Background With advances in massive parallel sequencing (MPS) technology, whole-genome sequencing (WGS) has gradually evolved into the first-tier diagnostic test for genetic disorders. However, deployment practice and pipeline testing for clinical WGS are lacking. Methods In this study, we...
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Autores principales: | , , , , , , , , , , , , , , , , , , |
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Formato: | Libro |
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BMC,
2023-04-01T00:00:00Z.
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Acceso en línea: | Connect to this object online. |
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Número de Clasificación: |
A1234.567 |
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