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Insights from a genome-wide truth set of tandem repeat variation

Tools for genotyping tandem repeats (TRs) from short read sequencing data have improved significantly over the past decade. Extensive comparisons of these tools to gold standard diagnostic methods like RP-PCR have confirmed their accuracy for tens to hundreds of well-studied loci. However, a scarcit...

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Detalles Bibliográficos
Autores principales:	Weisburd, Ben, Tiao, Grace, Rehm, Heidi L.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Cold Spring Harbor Laboratory 2023
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10197592/ https://www.ncbi.nlm.nih.gov/pubmed/37214979 http://dx.doi.org/10.1101/2023.05.05.539588

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