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STRipy: A graphical application for enhanced genotyping of pathogenic short tandem repeats in sequencing data
Expansions of short tandem repeats (STRs) have been implicated as the causal variant in over 50 diseases known to date. There are several tools which can genotype STRs from high‐throughput sequencing (HTS) data. However, running these tools out of the box only allows around half of the known disease...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9541159/ https://www.ncbi.nlm.nih.gov/pubmed/35395114 http://dx.doi.org/10.1002/humu.24382 |