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Digital amplification

DC
  • US 9,970,058 B2
  • Filed: 10/13/2014
  • Issued: 05/15/2018
  • Est. Priority Date: 08/02/1999
  • Status: Expired due to Fees
First Claim
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1. A method for detecting an imbalance in a mixed population of human genomic nucleic acid sequences, comprising:

  • distributing a mixed population of cell-free, human genomic nucleic acid template molecules from a sample into a set comprising at least fifteen assay samples such that said at least fifteen assay samples each comprises less than ten template molecules, wherein the mixed population comprises at least a first and a second human genomic sequence, wherein the first sequence is on a first chromosome and the second sequence is on a second chromosome;

    amplifying the template molecules in the assay samples, wherein an assay sample with a single template molecule forms homogeneous amplification products in the assay sample;

    analyzing by determining nucleic acid sequence of amplification products in the assay samples of the set to determine a first number of assay samples in the set which contain the first human genomic sequence and a second number of assay samples in the set which contain the second human genomic sequence;

    comparing the first number to the second number to determine an imbalance in the mixed population between the first and the second chromosomes.

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