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PhaseME: Automatic rapid assessment of phasing quality and phasing improvement

BACKGROUND: The detection of which mutations are occurring on the same DNA molecule is essential to predict their consequences. This can be achieved by phasing the genomic variations. Nevertheless, state-of-the-art haplotype phasing is currently a black box in which the accuracy and quality of the r...

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Detalles Bibliográficos
Autores principales: Majidian, Sina, Sedlazeck, Fritz J
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7379178/
https://www.ncbi.nlm.nih.gov/pubmed/32706368
http://dx.doi.org/10.1093/gigascience/giaa078