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

ABSTRACT: 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 of a family quartet allows the phasing of 95% of all variants as the uniformly heterozygous positions cannot be phased. Here, we report a phasing method based on a combination of transmission analysis, physical phasing by pair-end sequencing of libraries of staggered sizes and population-based analysis. Sequencing of a healthy Caucasians quartet at 120x coverage and combination of

SUBMITTER: Lajugie J 

PROVIDER: S-EPMC3669306 | biostudies-literature | 2013

REPOSITORIES: biostudies-literature