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Performance characterization of PCR-free whole genome sequencing for clinical diagnosis
To evaluate the performance of polymerase chain reaction (PCR)-free whole genome sequencing (WGS) for clinical diagnosis, and thereby revealing how experimental parameters affect variant detection. Five NA12878 samples were sequenced using MGISEQ-2000. NA12878 samples underwent WGS with differing de...
Autores principales: | , , , , , , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Lippincott Williams & Wilkins
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8913097/ https://www.ncbi.nlm.nih.gov/pubmed/35451387 http://dx.doi.org/10.1097/MD.0000000000028972 |