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...

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Detalles Bibliográficos
Autores principales: Kristmundsdottir, Snædis, Eggertsson, Hannes P, Arnadottir, Gudny A, Halldorsson, Bjarni V
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2020
Materias:
Applications Notes
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

Internet

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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