Haplotype phasing of an individual human genome

We have established a novel fosmid-based approach to haplotype resolve whole genomes directly by next generation sequencing (NGS). Variant positions (SNPs, indels and CNVs) within the genome 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.