Methods of analyzing similarity of at least two samples of a plurality of samples comprising genomic DNA

Abstract

The present application relates to a method for analyzing the similarity of at least two samples of a plurality of samples comprising genomic DNA. The method comprises the following steps: a) providing a plurality of samples comprising genomic DNA; b) performing a deterministic restriction site whole genome amplification (DRS-WGA) of the genomic DNA separately for each sample; c) preparing a massively parallel sequencing library from each product of DRS-WGA using a no-fragmentation, sequencing adapter / WGA fusion primer PCR reaction; d) performing low-pass whole genome sequencing of the massively parallel sequencing library at an average coverage depth of less than 1x; e) aligning the reads of each sample obtained in step d) to a reference genome; f) extracting the allele content at a plurality of polymorphic loci for each sample; g) calculating a pairwise similarity score locus for at least two samples based on the measured allele content at the plurality of loci; h) determining the similarity of at least two samples based on the similarity score, the method being used for non-invasive prenatal testing or diagnosis.

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