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trfermikit: a tool to discover VNTR-associated deletions

SUMMARY: We present trfermikit, a software tool designed to detect deletions larger than 50 bp occurring in Variable Number Tandem Repeats using Illumina DNA sequencing reads. In such regions, it achieves a better tradeoff between sensitivity and false discovery than a state-of-the-art structural va...

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Detalles Bibliográficos
Autores principales: McHale, Peter, 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/PMC8826174/
https://www.ncbi.nlm.nih.gov/pubmed/34864893
http://dx.doi.org/10.1093/bioinformatics/btab805