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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Bibliographic Details
Main Authors: Julien Lajugie, Rituparna Mukhopadhyay, Michael Schizas, Nathalie Lailler, Nicolas Fourel, Eric E Bouhassira
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2013-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC3669306?pdf=render