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CompoundHetVIP: Compound Heterozygous Variant Identification Pipeline

Compound Heterozygous ( CH) variant identification requires distinguishing maternally from paternally derived nucleotides, a process that requires numerous computational tools. Using such tools often introduces unforeseen challenges such as installation procedures that are operating-system specific,...

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Detalles Bibliográficos
Autores principales: Miller, Dustin B., Piccolo, Stephen R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: F1000 Research Limited 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7905494/
https://www.ncbi.nlm.nih.gov/pubmed/33680433
http://dx.doi.org/10.12688/f1000research.26848.2