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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...
Autores principales: | , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2020
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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 |