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Genome-wide sequencing as a first-tier screening test for short tandem repeat expansions

BACKGROUND: Screening for short tandem repeat (STR) expansions in next-generation sequencing data can enable diagnosis, optimal clinical management/treatment, and accurate genetic counseling of patients with repeat expansion disorders. We aimed to develop an efficient computational workflow for reli...

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Detalles Bibliográficos
Autores principales:	Rajan-Babu, Indhu-Shree, Peng, Junran J., Chiu, Readman, Li, Chenkai, Mohajeri, Arezoo, Dolzhenko, Egor, Eberle, Michael A., Birol, Inanc, Friedman, Jan M.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2021
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8351082/ https://www.ncbi.nlm.nih.gov/pubmed/34372915 http://dx.doi.org/10.1186/s13073-021-00932-9

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