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Sarek: A portable workflow for whole-genome sequencing analysis of germline and somatic variants

Whole-genome sequencing (WGS) is a fundamental technology for research to advance precision medicine, but the limited availability of portable and user-friendly workflows for WGS analyses poses a major challenge for many research groups and hampers scientific progress. Here we present Sarek, an open...

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Detalles Bibliográficos
Autores principales: Garcia, Maxime, Juhos, Szilveszter, Larsson, Malin, Olason, Pall I., Martin, Marcel, Eisfeldt, Jesper, DiLorenzo, Sebastian, Sandgren, Johanna, Díaz De Ståhl, Teresita, Ewels, Philip, Wirta, Valtteri, Nistér, Monica, Käller, Max, Nystedt, Björn
Formato: Online Artículo Texto
Lenguaje:English
Publicado: F1000 Research Limited 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7111497/
https://www.ncbi.nlm.nih.gov/pubmed/32269765
http://dx.doi.org/10.12688/f1000research.16665.2

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