METHOD FOR ANALYSING LOSS-OF-HETEROZYGOSITY (LOH) FOLLOWING DETERMINISTIC RESTRICTION-SITE WHOLE GENOME AMPLIFICATION (DRS-WGA)

摘要

There is disclosed a method for analysing loss-of-heterozygosity (LoH) in at least one sample comprising genomic DNA, the method comprising the steps of: a. providing the at least one sample comprising genomic DNA; b. carrying out a deterministic restriction- site whole genome amplification (DRS-WGA) of said genomic DNA; c. preparing a massively parallel sequencing library from the product of said DRS-WGA; d. carrying out low-pass whole genome sequencing at a mean coverage depth of < 1 on said massively parallel sequencing library; e. aligning the reads obtained in step d. on a reference genome for said at least one sample; f. extracting the allelic content at a plurality of loci, wherein said plurality of loci comprises polymorphic loci and/or heterozygous loci; g. assigning an LoH score to at least one genomic window of said reference genome for said at least one sample as a function of the number of loci with at least two different alleles in said plurality of loci.