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Article

Complete genome phasing of family quartet by combination of genetic, physical and population-based phasing analysis.

PloS one - 1 Jan 2013

Lajugie Julien, Mukhopadhyay Rituparna, Schizas Michael, Lailler Nathalie, Fourel Nicolas, Bouhassira Eric E

Abstract excerpt

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 to understand gene-flow and genotype-phenotype association at the population level. Transmission phasing by analysis...

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PMID: 23741343
DOI: 10.1371/journal.pone.0064571
PMCID: PMC3669306

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