HAPLOIDOME DETERMINATION BY DIGITIZED TRANSPOSONS

摘要

In certain embodiments, the present invention provides a way of “digitally” marking different the alleles of different chromosomes by using a transposase to insert differently barcoded transposons into genomic DNA before further analysis. According to this method, each allele becomes marked with a unique pattern of transposon barcodes. Because each unique pattern of transposon barcodes identifies a particular allele, the method facilitates determinations of ploidy and copy number variation, improves the ability to discriminate among homozygotes, heterozygotes, and patterns arising from sequencing errors, and allows loci separated by uninformative stretches of DNA to be identified as linked loci, thereby facilitating haplotype determinations. Also provided is a novel artificial transposon end that includes a barcode sequence in two or more positions that are not essential for transposition.

主权项

1. A kit comprising a set of two or more transposons, wherein each transposon comprises a different first transposon barcode sequence and transposon ends flanking a stuffer sequence, wherein the transposons each comprise the same first primer binding site in the stuffer sequence and are capable of being inserted into nucleic acids by a transposase.