Haplotypsequenzierung menschlicher Genome

Human genomes are diploid. To link genetic variation to gene function and phenotype, it is essential to determine the specific distribution of variants between the two homologous chromosomes. Here we present a fosmid pool-based next generation sequencing approach to haplotype-resolve whole genomes and its application to the analysis of multiple individuals. In sum, our work provides novel insights into the true nature of genetic variation and exemplifies that haplotyping human genomes is mandatory to fully understand the biology of genes and genomes, identify disease mechanisms and advance individualized medicine.