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SCIENTIFIC PREMISE

DNA sequence analysis for determination of genetic and epigenetic function is a worldwide endeavour. Sequencing of new plant and animal genomes is being reported almost daily. The cost of whole genome sequencing is reducing exponentially with the race by technology companies to develop the cheapest, fastest assay platforms. Technological advances such as nanotechnology and microfluidics are providing for projections that sequencing of whole genomes will take only hours and a few thousand dollars, with a goal of minutes and hundreds of dollars.

Bioinformatic management of massive sequence data including for chromosomal phase reassembly has become the major problem.

Haplomics’ approach to this problem is to dispense with computational requirements for chromosome phase assembly.

DNA preparations from single individuals are a diploid mix of the genomic DNA arising from both chromosomes. Sequence result output requires phase reassembly of the fragments to convert diploid data into the original di-haploid state of each of the pairs of chromosomes.