Methods for analyzing heterozygous loss (LoH) following critical restriction site whole genome amplification (DRS-WGA)

摘要

Disclosed is a method for analyzing loss-of-heterozygosity (LoH) in at least one sample comprising genomic DNA, the method comprising the steps of: (a) providing at least one sample comprising genomic DNA ; (b) performing deterministic restriction-site whole genome amplification (DRS-WGA) of the genomic DNA; (c) preparing a large-scale parallel sequencing library from the product of the DRS-WGA; (d) performing low-pass whole genome sequencing at an average coverage depth of less than 1 in the massively parallel sequencing library; (e) aligning the read obtained in step d on a reference genome for said at least one sample; (f) extracting allele content at the plurality of loci, wherein the plurality of loci comprises a polymorphic locus and/or a heterozygous locus; and (g) assigning a LoH score to at least one genomic window of the reference genome for the at least one sample as a function of the number of loci having at least two different alleles in the plurality of loci. .