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Accuracy of short tandem repeats genotyping tools in whole exome sequencing data
Background: Short tandem repeats are an important source of genetic variation. They are highly mutable and repeat expansions are associated dozens of human disorders, such as Huntington's disease and spinocerebellar ataxias. Technical advantages in sequencing technology have made it possible to...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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F1000 Research Limited
2020
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7327730/ https://www.ncbi.nlm.nih.gov/pubmed/32665844 http://dx.doi.org/10.12688/f1000research.22639.1 |