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Acorn: an R package for de novo variant analysis

BACKGROUND: The study of de novo variation is important for assessing biological characteristics of new variation and for studies related to human phenotypes. Software programs exist to call de novo variants and programs also exist to test the burden of these variants in genomic regions; however, I...

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Detalles Bibliográficos
Autor principal: Turner, Tychele N.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10475174/
https://www.ncbi.nlm.nih.gov/pubmed/37660114
http://dx.doi.org/10.1186/s12859-023-05457-z