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Abstract

The present invention provides a method for detecting variant cell-free DNA (cfDNA) in a sample obtained from a subject, where analysis of the sample includes a size-selection step which separates out different fragment sizes of DNA. The sample may be a limited volume sample such as a blood, serum or plasma sample of less than 500 μl (e.g. a blood or plasma sample of about 50 μl), or other sample that has a low content of cfDNA. The sample may have been stored and/or dried and not have been processed to remove cells or cellular material prior to storage. The size-selection step may comprise filtering-out, depleting or removing genomic DNA (gDNA) fragments of >200 bp, >300 bp, >500 bp, >700 bp, >1000 bp, >1200 bp, >1500 bp, or >2000 bp prior to analysis, e.g. prior to DNA sequencing. The method may further comprise performing an analysis that summarises or combines data across multiple loci.

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First Claim