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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
Publicado en:Gigascience
Autores principales: Majidian, Sina, Sedlazeck, Fritz J
Formato: Artigo
Lenguaje:Inglês
Publicado: Oxford University Press 2020
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC7379178/
https://ncbi.nlm.nih.gov/pubmed/32706368
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/gigascience/giaa078
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