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popSTR2 enables clinical and population-scale genotyping of microsatellites
SUMMARY: popSTR2 is an update and augmentation of our previous work ‘popSTR: a population-based microsatellite genotyper’. To make genotyping sensitive to inter-sample differences, we supply a kernel to estimate sample-specific slippage rates. For clinical sequencing purposes, a panel of known patho...
Autores principales: | Kristmundsdottir, Snædis, Eggertsson, Hannes P, Arnadottir, Gudny A, Halldorsson, Bjarni V |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7141861/ https://www.ncbi.nlm.nih.gov/pubmed/31804671 http://dx.doi.org/10.1093/bioinformatics/btz913 |
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