US 11,773,429 B2
Reduction of bias in genomic coverage measurements
Zeljko Dzakula, San Diego, CA (US)
Assigned to BIONANO GENOMICS, INC., San Diego, CA (US)
Filed by Bionano Genomics, Inc., San Diego, CA (US)
Filed on Nov. 20, 2020, as Appl. No. 17/100,062.
Application 17/100,062 is a division of application No. 15/117,689, granted, now 10,844,424, previously published as PCT/US2015/017356, filed on Feb. 24, 2015.
Claims priority of provisional application 62/101,291, filed on Jan. 8, 2015.
Claims priority of provisional application 61/944,465, filed on Feb. 25, 2014.
Prior Publication US 2021/0147914 A1, May 20, 2021
Int. Cl. G01N 33/48 (2006.01); G01N 33/50 (2006.01); C12Q 1/6809 (2018.01)
CPC C12Q 1/6809 (2013.01) 21 Claims
OG exemplary drawing
 
1. A system for characterizing a sample, comprising:
one or more chambers for labeling sample molecules with at least two labels;
a fluidic channel for translocating the labeled sample molecules, wherein the fluidic channel is configured to elongate at least a portion of the sample molecule, and wherein the fluidic channel has a length of at least 10 nm and a cross-sectional diameter of less than 5000 nm;
a device for detecting counts of signals arising from the labeled samples in the fluidic channels; and
a processor in data communication with the device, wherein the processor is configured to generate a copy number profile of the sample and eliminate or minimize one or both of: (a) biases caused by label density on the labeled sample molecules; or (b) biases caused by factors other than label density of the labeled sample molecules,
wherein minimizing or eliminating bias comprises normalizing scaled coverage depths by characteristic molecular length of the labeled sample molecules, when present.