Bionano Genomics, Inc.

Alex R Hastie

Han Cao

Ernest Tsz-Tsun Lam

Michael G Saghbini

Henry B Sadowski

Goran Pljevaljcic

Ming H Xiao

Željko Džakula

Deng Zhang

According to some embodiments herein, methods and kits for labeling and analyzing nucleic acids are provided. In some embodiments, sequence-specific labeling is performed on polynucleotide sequences associated with a host genome, and the presence or absence of patterns characteristic of extragenomic sequences are determined.

Analysis of polynucleotides

Methods for single-molecule preparation and analysis are disclosed herein. The methods can, for example, be used for isolating and analyzing DNA from various biological samples.

Methods for single-molecule analysis

Systems are provided for detecting and quantitating short nucleic acid molecules.

Characterization of molecules in nanofluidics

Methods of double-stranded nucleic acid sequence determination and assembly that are able to identify insertions, deletions, repeat region sizes and genomic rearrangements, for example, are disclosed herein, which can use relatively large labeled nucleic acid fragments to analyze the structure of even larger genetic regions. In some embodiments these methods involve the use of certain parameters which unexpectedly improve overall method performance. In some embodiments these methods involve sample labeling that does not result in the formation of single-stranded nucleic acid fragment labeling intermediaries.

Methods of determining nucleic acid structural information

Methods are provided for detecting and quantitating molecules using fluidics. In preferred embodiments, the methods comprise analyzing blood to detect the presence of circulating DNA or cells from a fetus or tumor.

Methods are provided for characterizing a sample comprising polynucleotide sequences. The methods can comprise labeling nucleic acid molecules of the sample, translocating the plurality of labeled sample nucleic acid molecules though one or more fluidic nanochannels, detecting physical counts of signals from the labeled sample nucleic acid molecule, and determining a copy number of a genome or a fragment or fragments thereof in the sample.

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San Diego, CA, United States of America

Alex R Hastie