ANALYSIS OF NUCLEIC ACIDS

摘要

Provided herein are improved methods, compositions, and kits for analysis of nucleic acids. The improved methods, compositions, and kits can enable copy number estimation of a nucleic acid in a sample. Also provided herein are methods, compositions, and kits for determining the linkage of two or more copies of a target nucleic acid in a sample (e.g. whether the two or more copies are on the same chromosome or different chromosomes) or for phasing alleles.

主权项

1. A method of identifying a plurality of target nucleic acids as being present on the same polynucleotide, the method comprising:
a) separating a sample comprising a plurality of polynucleotides into a first subsample and a second subsample, wherein the polynucleotides comprise a first target nucleic acid and a second target nucleic acid; b) contacting the first subsample with an agent capable of physically separating the first target nucleic acid from the second target nucleic acid if both target nucleic acids are present on the same polynucleotide; c) following step b, separating the first subsample into a first set of partitions; d) determining a number of partitions in the first set of partitions that comprise both of the target nucleic acids; e) separating the second subsample into a second set of partitions; f) determining a number of partitions in the second set of partitions that comprise both of the target nucleic acids; and g) comparing the value obtained in step d with the value obtained in step f to determine whether the first target nucleic acid and the second target nucleic acid are present within the same polynucleotide.