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Complete Genome Phasing of Family Quartet by Combination of Genetic, Physical and Population-Based Phasing Analysis

Phased genome maps are important to understand genetic and epigenetic regulation and disease mechanisms, particularly parental imprinting defects. Phasing is also critical to assess the functional consequences of genetic variants, and to allow precise definition of haplotype blocks which is useful t...

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Autors principals: Lajugie, Julien, Mukhopadhyay, Rituparna, Schizas, Michael, Lailler, Nathalie, Fourel, Nicolas, Bouhassira, Eric E.
Format: Artigo
Idioma:Inglês
Publicat: Public Library of Science 2013
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3669306/
https://ncbi.nlm.nih.gov/pubmed/23741343
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0064571
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