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Linked-read sequencing for detecting short tandem repeat expansions

Detection of short tandem repeat (STR) expansions with standard short-read sequencing is challenging due to the difficulty in mapping multicopy repeat sequences. In this study, we explored how the long-range sequence information of barcode linked-read sequencing (BLRS) can be leveraged to improve re...

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Detalles Bibliográficos
Autores principales:	Chiu, Readman, Rajan-Babu, Indhu-Shree, Birol, Inanc, Friedman, Jan 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/PMC9174224/ https://www.ncbi.nlm.nih.gov/pubmed/35672336 http://dx.doi.org/10.1038/s41598-022-13024-4

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