Cost-effective and high-throughput chromosomal haplotyping

DESCRIPTION (provided by applicant): Haplotype is fundamental genetic information; it provides essential information for deciphering the functional and etiological roles of genetic variants. Current sequencing and genotyping technologies deliver only halfof the genetic information of each individual. They cannot deliver the other half of the information; the structural conformations of alleles or the haplotypes. Existing haplotyping technologies cannot meet the market needs on cost, labor, throughput, accuracy, resolution, and phasing distance; therefore, haplotype information has been absent from all but a handful of genome studies. We propose a cost-efficient technology towards commercialization to meet the unmet market needs for experimental haplotype determination. The proposed research in this grant application is based on the single-chromosome isolation approach that we developed recently. The low-resolution caveat of the first version of this approach has been resolved by our recently published w