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Analysis workflow to assess de novo genetic variants from human whole-exome sequencing

Here, we present a protocol to analyze de novo genetic variants derived from the whole-exome sequencing (WES) of proband-parent trios. We provide stepwise instructions for using existing pipelines to call de novo mutations (DNMs) and determine whether the observed number of such mutations is enriche...

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Detalles Bibliográficos
Autores principales:	Diab, Nicholas S., King, Spencer, Dong, Weilai, Allington, Garrett, Sheth, Amar, Peters, Samuel T., Kahle, Kristopher T., Jin, Sheng Chih
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Elsevier 2021
Materias:	Protocol
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7960548/ https://www.ncbi.nlm.nih.gov/pubmed/33748785 http://dx.doi.org/10.1016/j.xpro.2021.100383

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