Methods for analyzing nucleic acids using sequence read family size distribution

Abstract

The present invention provides a method for determining a quantitative measure indicative of the number of nucleic acids in a sample that map to a specific genomic region. The method involves: (a) providing a sample containing parent nucleic acids; (b) amplifying these parent nucleic acids to generate progeny nucleic acids; (c) sequencing the progeny nucleic acids to produce sequence reads; (d) grouping the sequence reads into families, where each family corresponds to sequence reads derived from the same parent nucleic acid; and (e) utilizing both the number of families mapping to the genomic region and the family size distribution of these families to calculate a quantitative measure indicative of the number of nucleic acids in the sample that map to the genomic region. This method enhances the accuracy of quantifying nucleic acids within a genomic region, particularly in complex or low-abundance samples.

Dependencies are inferred from the claim text.