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Comparison of three variant callers for human whole genome sequencing

Testing of patients with genetics-related disorders is in progress of shifting from single gene assays to gene panel sequencing, whole-exome sequencing (WES) and whole-genome sequencing (WGS). Since WGS is unquestionably becoming a new foundation for molecular analyses, we decided to compare three c...

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Detalles Bibliográficos
Autores principales: Supernat, Anna, Vidarsson, Oskar Valdimar, Steen, Vidar M., Stokowy, Tomasz
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6294778/
https://www.ncbi.nlm.nih.gov/pubmed/30552369
http://dx.doi.org/10.1038/s41598-018-36177-7