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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...
Autores principales: | Lajugie, Julien, Mukhopadhyay, Rituparna, Schizas, Michael, Lailler, Nathalie, Fourel, Nicolas, Bouhassira, Eric E. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2013
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3669306/ https://www.ncbi.nlm.nih.gov/pubmed/23741343 http://dx.doi.org/10.1371/journal.pone.0064571 |
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