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Unfazed: parent-of-origin detection for large and small de novo variants

SUMMARY: Unfazed is a command-line tool to determine the parental gamete of origin for de novo mutations from paired-end Illumina DNA sequencing reads. Unfazed uses variant information for a sequenced trio to identify the parental gamete of origin by linking phase-informative inherited variants to d...

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Detalles Bibliográficos
Autores principales: Belyeu, Jonathan R, Sasani, Thomas A, Pedersen, Brent S, Quinlan, Aaron R
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8665740/
https://www.ncbi.nlm.nih.gov/pubmed/34146087
http://dx.doi.org/10.1093/bioinformatics/btab454