Detection of repeat expansions in large next generation DNA and RNA sequencing data without alignment

Bioinformatic methods for detecting short tandem repeat expansions in short-read sequencing have identified new repeat expansions in humans, but require alignment information to identify repetitive motif enrichment at genomic locations. We present superSTR, an ultrafast method that does not require...

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Detalles Bibliográficos
Autores principales: Fearnley, L. G., Bennett, M. F., Bahlo, M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9338934/
https://www.ncbi.nlm.nih.gov/pubmed/35907931
http://dx.doi.org/10.1038/s41598-022-17267-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9338934/
https://www.ncbi.nlm.nih.gov/pubmed/35907931
http://dx.doi.org/10.1038/s41598-022-17267-z

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