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Clinical genomics and precision medicine

Precision Medicine emerges from the genomic paradigm of health and disease. For precise molecular diagnoses of genetic diseases, we must analyze the Whole Exome (WES) or the Whole Genome (WGS). By not needing exon capture, WGS is more powerful to detect single nucleotide variants and copy number var...

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Detalles Bibliográficos
Autores principales: Pena, Sérgio D. J., Tarazona-Santos, Eduardo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sociedade Brasileira de Genética 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9555143/
https://www.ncbi.nlm.nih.gov/pubmed/36218382
http://dx.doi.org/10.1590/1678-4685-GMB-2022-0150