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Discovery and quality analysis of a comprehensive set of structural variants and short tandem repeats

Structural variants (SVs) and short tandem repeats (STRs) are important sources of genetic diversity but are not routinely analyzed in genetic studies because they are difficult to accurately identify and genotype. Because SVs and STRs range in size and type, it is necessary to apply multiple algori...

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Detalles Bibliográficos
Autores principales: Jakubosky, David, Smith, Erin N., D’Antonio, Matteo, Jan Bonder, Marc, Young Greenwald, William W., D’Antonio-Chronowska, Agnieszka, Matsui, Hiroko, Stegle, Oliver, Montgomery, Stephen B., DeBoever, Christopher, Frazer, Kelly A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7287045/
https://www.ncbi.nlm.nih.gov/pubmed/32522985
http://dx.doi.org/10.1038/s41467-020-16481-5