US 12,442,052 B2
Analysis of polynucleotides
Han Cao, San Diego, CA (US); Alex R. Hastie, San Diego, CA (US); Ernest Tsz-Tsun Lam, San Diego, CA (US); and Željko Džakula, San Diego, CA (US)
Assigned to BIONANO GENOMICS, INC., San Diego, CA (US)
Appl. No. 14/897,213
Filed by BioNano Genomics, Inc., Philadelphia, PA (US)
PCT Filed Jun. 9, 2014, PCT No. PCT/US2014/041568
§ 371(c)(1), (2) Date Dec. 9, 2015,
PCT Pub. No. WO2014/200926, PCT Pub. Date Dec. 18, 2014.
Claims priority of provisional application 61/833,378, filed on Jun. 10, 2013.
Prior Publication US 2016/0201147 A1, Jul. 14, 2016
Int. Cl. C12Q 1/70 (2006.01); C12Q 1/6858 (2018.01); C12Q 1/6886 (2018.01); C12Q 1/6893 (2018.01); G16B 30/00 (2019.01); G16B 30/10 (2019.01)
CPC C12Q 1/705 (2013.01) [C12Q 1/6858 (2013.01); C12Q 1/6886 (2013.01); C12Q 1/6893 (2013.01); G16B 30/00 (2019.02); G16B 30/10 (2019.02); Y02A 50/30 (2018.01)] 12 Claims
 
1. A method of determining the presence or absence of one or more foreign elements in a subject, the method comprising:
obtaining a biological sample of the subject, the biological sample comprising polynucleotides, wherein the polynucleotides comprise a genome of the subject;
removing host polynucleotides from the biological sample, wherein the host polynucleotides are bound with a methyl-CpG binding domain (MBD), and wherein the removal of the host polynucleotides comprises binding the methyl-CpG binding domain with protein A magnetic beads;
labeling the polynucleotides in a sequence-specific manner to provide a pattern of sequence-specific labels on the polynucleotides, wherein the labeling comprises non-cutting labeling of the polynucleotides, and wherein labeling the polynucleotides in the sequence-specific manner to provide the pattern of sequence-specific labels on the polynucleotides comprises labeling the polynucleotides with labeling probes or enzymes having a lower label density for the genome of the subject than for the foreign elements;
linearizing the polynucleotides in nanochannels following labeling, whereby the nanochannels comprise labeled single molecule polynucleotides;
obtaining images of labeled single-molecule polynucleotides linearized in the nanochannels;
processing the images into digital representations of relative label locations in the polynucleotides;
aligning the relative label locations on the polynucleotides in silico against a foreign reference map comprising relative locations of labels on foreign elements, thereby determining a quantity of the polynucleotides that align to relative locations of label locations of foreign elements, wherein the foreign reference map comprising relative locations of labels on foreign elements comprises a label density of about 5 labels to about 20 labels per 100 kb; and
determining the presence of foreign elements in the subject when the quantity exceeds a limit of detection, wherein the one or more foreign elements comprise a viral sequence and/or a transposable element sequence.