Haplotype phasing of 12 human genomes

We have established a novel fosmid-based approach to haplotype resolve whole genomes directly by next generation sequencing (NGS). The 12 haplotype-resolved genomes ‘Max Planck’ (MP) 2–13 are from a ‘Haploid Reference Resource’ of 100 fosmid libraries generated from 100 probands of a representative German population cohort. Variant positions within the genomes are detected, and identical alleles at heterozygous, haplotype-informative positions allow the haploid fosmids to be assigned to one of two physical haplotype sequences. This prepares the foundation to tile overlapping fosmids into long contiguous molecular haplotype sequences.