US 12,234,510 B2
Varietal counting of nucleic acids for obtaining genomic copy number information
James Hicks, Locust Valley, NY (US); Nicholas Navin, Houston, TX (US); Jennifer Troge, Oyster Bay, NY (US); Zihua Wang, Huntington, NY (US); and Michael Wigler, Cold Spring Harbor, NY (US)
Assigned to COLD SPRING HARBOR LABORATORY, Cold Spring Harbor, NY (US)
Filed by Cold Spring Harbor Laboratory, Cold Spring Harbor, NY (US)
Filed on Feb. 7, 2019, as Appl. No. 16/269,818.
Application 16/269,818 is a continuation of application No. 15/063,278, filed on Mar. 7, 2016.
Application 15/063,278 is a continuation of application No. 13/278,333, filed on Oct. 21, 2011, granted, now 9,404,156, issued on Aug. 2, 2013.
Claims priority of provisional application 61/510,579, filed on Jul. 22, 2011.
Claims priority of provisional application 61/406,067, filed on Oct. 22, 2010.
Prior Publication US 2019/0153535 A1, May 23, 2019
This patent is subject to a terminal disclaimer.
Int. Cl. C12P 19/34 (2006.01); C12Q 1/683 (2018.01); C12Q 1/6874 (2018.01); C12Q 1/6881 (2018.01); C12Q 1/6886 (2018.01); G16B 25/00 (2019.01)
CPC C12Q 1/6874 (2013.01) [C12Q 1/683 (2013.01); C12Q 1/6881 (2013.01); C12Q 1/6886 (2013.01); G16B 25/00 (2019.02); C12Q 2600/156 (2013.01)] 36 Claims
 
1. A method comprising:
a) obtaining segments of genomic nucleic acids from a sample containing the genomic nucleic acids;
b) randomly tagging the segments of genomic nucleic acids with different nucleic acid tags, thereby generating unique tagged nucleic acid molecules from the segments of genomic nucleic acids, such that each of the unique tagged nucleic acid molecules comprises a segment of the segments of the genomic nucleic acids from step (a) and a nucleic acid tag of the nucleic acid tags;
c) subjecting the unique tagged nucleic acid molecules to a polymerase chain reaction (PCR), thereby generating copies of the unique tagged nucleic acid molecules;
d) generating tag associated sequence reads by sequencing the copies of the unique tagged nucleic acid molecules of step (c);
e) assigning each of the unique tagged nucleic acid molecules to a location on a genome by mapping each of the tag associated sequence reads of step (d) to a location in the genome; and
f) in a plurality of locations in the genome, obtaining relative copy number information of the genomic nucleic acids from the sample based on the number of unique tagged nucleic acid molecules that have been assigned to each of the plurality of locations in the genome.