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Publications

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Whole genome optical mapping reveals multiple fusion events chained by large novel sequences in cancer
BioRxiv 2017
Chan EKF et al
A reference genome for Nicotiana tabacum enables map-based cloning of homeologous loci implicated in nitrogen utilization efficiency
BMC Genomics 2017
Edwards KD et al
Improved maize reference genome with single-molecule technologies
Nature 2017
Jiao Y et al
runBNG: A software package for BioNano genomic analysis on the command line
Bioninformatics 2017
Yuan Y et al
High-quality de novo assembly of the apple genome and methylome dynamics of early fruit development
Nature Genetics 2017
Daccord N et al
Draft genome of spinach and transcriptome diversity of 120 Spinacia accessions
Nature Communications 2017
Xu C et al
Sequencing and de novo assembly of a near complete indica rice genome
Nature Communications 2017
Du H et al
OMSim: a simulator for optical map data.
Bioinformatics 2017
Miclotte G et al
A chromosome conformation capture ordered sequence of the barley genome.
Nature 2017
Mascher M et al
Construction of a map-based reference genome sequence for barley, Hordeum vulgare L.
Sci Data 2017
Beier S et al
Improved de novo Genome Assembly: Linked-Read Sequencing Combined with Optical Mapping Produce a High Quality Mammalian Genome at Relatively Low Cost
BioRxiv 2017
Mohr DW et al
Evaluation of GRCh38 and de novo haploid genome assemblies demonstrates the enduring quality of the reference assembly
Genome Res 2017
Schneider VA et al
An Integrative Framework For Detecting Structural Variations In Cancer Genomes
BioRxiv 2017
Dixon J et al
Genomic innovation for crop improvement
Nature 2017
Bevan MW et al
Extensive hidden genetic variation shapes the structure of functional elements in Drosophila
BioRxiv 2017
Chakraborty M et al
Single-molecule sequencing and chromatin conformation capture enable de novo reference assembly of the domestic goat genome
Nature Genetics 2017
Bickhart DM et al
Next Generation Mapping Reveals Novel Large Genomic Rearrangements in Prostate Cancer
Oncotarget 2017
Jaratlerdsiri W et al
Cas9-Assisted Targeting of CHromosome segments (CATCH) for targeted nanopore sequencing and optical genome mapping
BioRxIV 2017
Gabrieli T et al
Improving and correcting the contiguity of long-read genome assemblies of three plant species using optical mapping and chromosome conformation capture data
Genome Research 2017
Jiao WB et al
ABySS 2.0: Resource-efficient assembly of large genomes using a Bloom filter
Genome Research 2017
Jackman SD et al
Ongoing human chromosome end extension driven by a primate ancestral genomic region revealed by analysis of BioNano genomics data
BioRxIV 2017
Shao H et al
Reduced representation optical methylation mapping (R2OM2).
BioRxiv 2017
Grunwald A et al
Rapid Automated Large Structural Variation Detection in a Diploid Genome by NanoChannel Based Next-Generation Mapping
BioRxIV 2017
Hastie A et al
An advanced reference genome of Trifolium subterraneum L. reveals genes related to agronomic performance
Plant Biotechnology Journal 2017
Kaur P et al
Modeling the relaxation of internal DNA segments during genome mapping in nanochannels
AIP Biomicrofluidics 2016
Jain A et al
Wild tobacco genomes reveal the evolution of nicotine biosynthesis
BioRxiv 2017
Xu S et al
High-throughput single-molecule mapping links subtelomeric variants and long-range haplotypes with specific telomeres
Nucleic Acids Res 2017
Young E et al
The genome of Chenopodium quinoa
Nature Genetics 2017
Jarvis DE et al
Hybrid assembly of the large and highly repetitive genome of Aegilops tauschii, a progenitor of bread wheat, with the MaSuRCA mega-reads algorithm
Genome Research 2017
Zimin AV et al
Ancient duplication and horizontal transfer of a toxin gene cluster reveals novel mechanisms in the cercosporin biosynthesis pathway
BioRxiv 2017
de Jonge R et al
De novo assembly and phasing of a Korean human genome
Nature 2016 10/5/2016
Jeong-Sun Seo
OMBlast: alignment tool for optical mapping using a seed-and-extend approach.
Bioinformatics 2016
Leung AK et al
The genome sequence of allopolyploid Brassica juncea and analysis of differential homoeolog gene expression influencing selection
Nature Genetics 2016 
Yang et al
Ethnically relevant consensus Korean reference genome towards personal reference genomes
BioRxiv 2016
Yun Sung Cho et al
Improvement of the threespine stickleback (Gasterosteus aculeatus) genome using a Hi-C-based Proximity-Guided Assembly method
BioRxiv 2016
Peichel CL et al
High-Quality Assembly of an Individual of Yoruban Descent
BioRxiv 2016
Steinberg KM
The Amaranth Genome: Genome, Transcriptome, and Physical Map Assembly
The Plant Genome (2016) 
J. W. Clouse et al
Epigenomic Diversity in a Global Collection of Arabidopsis thaliana Accessions
Cell (2016) 
Kawakatsu et al
Genome Mapping in Plant Comparative Genomics
Trend in Plant Science (2016) 
Chaney et al
Long-read sequencing and de novo assembly of a Chinese genome
Nature Communications (2016) 
Shi et al
Analysis of tandem gene copies in maize chromosomal regions reconstructed from long sequence reads
PNAS (2016) 
Dong et al
Extensive sequencing of seven human genomes to characterize benchmark reference materials
Scientific Data (2016) 
Zook et al
Genome assembly and geospatial phylogenomics of the bed bug Cimex lectularius
Nature Communications (2016) 
Rosenfeld et al.
Improvement of the banana “Musa acuminata” reference sequence using NGS data and semi-automated bioinformatics methods
BMC Genomics (2016) 
Martin et al.
Bionano genome mapping of individual chromosomes supports physical mapping and sequence assembly in complex plant genomes
Plant Biotechnology Journal (2016) 
Stankova et al
A hybrid approach for de novo human genome sequence assembly and phasing.
Nat Methods 2016
Mostovoy Y et al
Third-generation sequencing and the future of genomics
BioRxiv 2016
Lee H et al
Genome-Wide Structural Variation Detection by Genome Mapping on Nanochannel Arrays
Genetics (2016) 
Mak AC et al.,
Optical Nano-mapping and Analysis of Plant Genomes
Plant Cytogenetics 2015 
Cheng et al
Single-molecule sequencing of the desiccation-tolerant grass Oropetium thomaeum
Nature (2015) 
VanBuren et al.
Using optical mapping data for the improvement of vertebrate genome assemblies
GigaScience 2015 
Howe et al
Whole-genome mutational burden analysis of three pluripotency induction methods
Nature Communications 2015
Bhutani et al
CRISPR-CAS9 D10A nickase target-specific fluorescent labeling of double strand DNA for whole genome mapping and structural variation analysis
Nucleic Acids Research 2015
McCaffrey J et al
Tools and pipelines for BioNano data: molecule assembly pipeline and FASTA super scaffolding tool.
BMC Genomics (2015); 16:734 
Shelton, J., et al.
Bacteriophage strain typing by rapid single molecule analysis.
Nucleic Acids Research (2015); 10:1093 
Grunwald, Assef, et al.
Rapid construction of genome map for large yellow croaker (Larimichthys crocea) by the whole-genome mapping in BioNano Genomics Irys system.
BMC Genomics (2015); 16:670 
Xiao, Shijun, et al.
The genome and methylome of a beetle with complex social behavior, Nicrophorus vespilloides (Coleoptera: Silphidae)
Genome Biology and Evolution (2015) 
B. Cunningham et al
Assembly and diploid architecture of an individual human genome via single-molecule technologies.
Nature Methods (2015); e3454 
Pendleton, M., Sebra, R., et al.
Structural forms of the human amylase locus and their relationships to SNPs, haplotypes and obesity.
Nature Genetics (2015); e3340 
Usher, C. L., Handsaker, R., et al.
Assessing structural variation in a personal genome—towards a human reference diploid genome.
BioMed Central Genomics (2015); 16: 286 
English. A, et al.
Re-replication Origins in Sciara DNA Puffs Revealed by New and Old Genomic Technologies including Nanopore Sequencing
The FASEB Journal 2015
Urban J et al
Discoveries and Advances in Plant and Animal Genomics.
Functional & Integrative Genomics (2015); 15 (2): 121-129 
Appels, R., et al.
Single Haplotype Assembly of the Human Genome from a Hydatidiform Mole.
Genome Research (2014); 24: 2066-2076 
Steinberg, K. et al.
Rapid Detection of Structural Variation in a Human Genome using Nanochannel-based Genome Mapping Technology.
Giga Science (2014); 3(December 2014): 34 
Cao, H., et al.
Finished Sequence and Assembly of the DUF1220-rich 1q21 Region Using a Haploid Human Genome.
BioMed Central Genomics (2014); 15(July 2014): 387 
O’Bleness, M., et al.
Rapid Genome Mapping in Nanochannel Arrays for Highly Complete and Accurate De Novo Sequence Assembly of the Complex Aegilops tauschii Genome.
PLoS ONE (2013); 8(2): e55864 
Hastie, A.R., et al.
Genome mapping on Nanochannel arrays for structural variation analysis and sequence assembly.
Nature Biotechnology (2012); 30(8):771 
Lam, E.T., et al.
Multicolor super-resolution DNA imaging for genetic analysis.
Nano Letters (2012); 12(7): 3861-6 
Baday, M., et al.
Single molecule linear analysis of DNA in nano-channel labeled with sequence specific fluorescent probes.
Nucleic Acids Research (2010); 38(18): 8 
Das, S. K., et al.
DNA in Nanochannels – directly visualizing genomic information.
Chemical Society Reviews (2010); 39, 985 – 999 
Persson, F., et al.
Rapid DNA mapping by fluorescent single molecule detection.
Nucleic Acids Research (2007); 35(3):e16 
Xiao, M et. al.
Statics and dynamics of single DNA molecules confined in Nanochannels.
Physical Review Letters. (2005); 94, No. 19: 4 
Reisner, W., et al.
Restriction mapping in nanofluidic devices.
PNAS (2005); 102, No. 29: 10012-10016 
Riehn, R., et al.
Single-molecule studies of repressor-DNA interactions show long-range interactions.
PNAS (2005); 102, No. 28: 9796-9801 
Wang, Y. M., et al.
The dynamics of genomic-length DNA molecules in 100-nm channels.
PNAS (2004); 101:10979-83 
Tegenfeldt, J.O., et al.
Micro- and nanofluidics for DNA analysis.
Anal Bioanal Chem (2004); 378: 1678-92 
Tegenfeldt, J. O., et al.
Scanning the Controls: Genomics and Nanotechnology.
IEEE Transactions on Nanotechnology (2002); 1:12 
Austin, R.H., et al.
Genomics via Optical Mapping (I): 0-1 Laws for Mapping with Single Molecules
BioRxiv 2013
Anantharaman T et al
Fabrication of Gradient Fluidic Structures Interfacing Microfluidics and Nanofluidics.
Applied Physics Letters (2002); 81:3058 
Cao, H., et al.
Rapid Genome Mapping in Nanochannel Arrays for Highly Complete and Accurate De Novo Sequence Assembly of the Complex Aegilops tauschii Genome
PLoS ONE (2013); 8(2): e55864 
Hastie, A.R., et al.
Fabrication of 10nm Enclosed Nanofluidic Channels.
Applied Physics Letters (2002); 81:174 
Cao, H., et al.
Single-molecule denaturation mapping of DNA in nanofluidic channels.
PNAS (2010); 107(30) 13294-13299 
Reisner, W., et al.

Videos

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Dr. Pui Kwok
University of California San Francisco, USA
Dr. Kwok discusses Bionano structural variant discovery in human diseases
Dr. Jaroslav Dolezel
Institute of Experimental Biology, Czech Republic
Dr. Jaroslav Dolezel discusses his work in plant genetics
Dr. Josh Udall
Brigham Young University,
USA
Dr. Udall discusses Bionano mapping and the cotton genome
Dr. Sue Brown
Kansas State University,
USA
Dr. Brown shares how Bionano genome maps help validate assemblies
Dr. Vanessa Hayes
Garvan Institute for Medical Research, Australia
Dr. Hayes discusses how Bionano aids her work prostate cancer

Webinars

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Bionano Saphyr Access
Bionano Access 1.1 and Bionano Solve 3.1 – Overview
Bionano Genomics
View Webinar Recording (May require download of GoToMeeting player)
Next Generation Karyotyping: Detecting Cancer-Associated Structural Variants Using Bionano Optical Maps.
Penn State Hershey
Dr. James Broach
View Webinar Recording (May require download of GoToMeeting player)
Download Webinar Presentation
Bionano Access for Saphyr Genome Mapping
Bionano Access 1.0 and Bionano Solve 3.0 – Overview
Bionano Genomics
View Webinar Recording (May require download of GoToMeeting player)
Vanessa Hayes
Bionano Webinar Series – Applications of Bionano Next-generation Mapping (NGM) Method to Cancer Patients – NGS is not Enough
Garvan Institute of Medical Research
Dr. Vanessa Hayes, PhD
View Webinar Recording (May require download of GoToMeeting player)
Eric Vilain
Bionano Webinar Series – Bionano Structural Variation Detection Helps Resolve Undiagnosed Genetic Disorders
Chief of Medical Genetics at UCLA
Dr. Eric Vilain, MD, PhD
View Webinar Recording (May require download of GoToMeeting player)
Alex Harkess
Bionano Optical Maps Help Solving Mystery of Garden Asparagus Sex Chromosomes.
Donald Danforth Plant Science Center
Alex Harkess
View Webinar Recording (May require download of GoToMeeting player)
Florian Jupe
Structural Variation Analysis within the Arabidopsis 1,001 Epigenomes Project
Salk Institute of Biological Studies
Florian Jupe
View Webinar Recording (May require download of GoToMeeting player)
gEVAL- A Genome Evaluation Browser for Improving Genome Assemblies
Wellcome Trust Sanger Institute
William Chow
View Webinar Recording (May require download of GoToMeeting player)
Using BioNano Maps to Improve an Insect Genome Assembly​
Kansas State University
Dr. Sue Brown
View Webinar Recording (May require download of GoToMeeting player)
Bridging the Gap between Micro and Macro: Genetic and Structural Variation in the Tomato Clade
Wageningen University
Dr. Gabino Sanchez Perez
View Webinar Recording (May require download of GoToMeeting player)
Diploid Genomic Architecture of an Individual Human
Icahn School of Medicine at Mount Sinai
Dr. Ali Bashir and Dr. Bobby Sebra
View Webinar Recording (May require download of GoToMeeting player)
Using Genome Maps to Create Accurate Human Genome Assemblies
The Genome Institute at Washington University
Tina Graves
View Webinar Recording (May require download of GoToMeeting player)
Mapping Single Chromosomes of Polyploid Wheat Using NanoChannel Arrays
Institute of Experimental Botany, Olomouc
Dr. Jaroslav Dolezel
View Webinar Recording (May require download of GoToMeeting player)
Toward Rapid Validation of Coding Fusions in Cancer Genomes: Multiple Myeloma First
Emory University
Dr. Michael Rossi
View Webinar Recording (May require download of GoToMeeting player)

Posters

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Efficient Structural Variation Analysis and Annotation using Bionano’s Next-Generation Mapping (NGM)
May, 2017
European Society of Human Genetics Annual Meeting, Copenhagen, Denmark
Next-Generation Mapping: Application to Clinically Relevant Structural Variation Analysis
May, 2017
European Society of Human Genetics Annual Meeting, Copenhagen, Denmark
Use of Bionano Optical Maps to Identify Medically-Relevant Genomic Variation
March, 2017
ACMG Annual Clinical Genetics Meeting, Phoenix, Arizona
Detecting a Novel Range of Large Somatic Genomic Rearrangements in Human Cancer Using the Bionano Optical Mapper
February, 2017
Advances in Genome Biology and Technology 2017 General Meeting, Hollywood, FL
Potential for improved molecular diagnosis of facioscapulohumeral dystrophy (FSHD) through D4Z4 array quantitation using Bionano Optical Maps
February, 2017
Advances in Genome Biology and Technology 2017 General Meeting, Hollywood, FL
Structural Variation Landscape Across 26 Human Populations Reveals Population Specific Variation Patterns in Complex Genomic regions
February, 2017
Advances in Genome Biology and Technology 2017 General Meeting, Hollywood, FL
Genome-Wide, Highly Sensitive and Accurate Structural Variation Detection in Plants and Animals by Next-Generation Mapping
January, 2017
Plant and Animal Genome Conference XXV, San Diego, CA
The Versatility of Next-Generation Mapping: An Encyclopedia of Genomes
January, 2017
Plant and Animal Genome Conference XXV, San Diego, CA
Accessing the Genomic Dark Matter: Using Next-Generation Mapping to Identify Large-Scale Repeat Structures in Maize
January, 2107
Plant and Animal Genome Conference XXV, San Diego, CA
Building High-quality, de novo Genome Assemblies by Scaffolding Next-Generation Sequencing with BioNano’s Next-Generation Mapping
January, 2017
Plant and Animal Genome Conference XXV, San Diego, CA
High Molecular Weight DNA Isolation from Plant Tissue for Next-Generation Mapping Applications
January, 2017
Plant and Animal Genome Conference XXV, San Diego, CA
In Silico and Biological Validation of BioNano Mapping Based Insertion, Deletion and Translocation Detection
October, 2016
American Society of Human Genetics, Vancouver, Canada
Next-Generation Mapping: A Highly Sensitive and Accurate Method for Interrogation of Clinically Relevant Structural Variation
October, 2016
American Society of Human Genetics, Vancouver, Canada
NanoChannel Array Based Genome Mapping Reveals “Dark Matter” in the Genome: Enabling Comprehensive Genome Wide Large Structural Variation Analysis in Population Studies
October, 2016
American Society of Human Genetics, Vancouver, Canada
Irys Next-Generation Mapping to Identify Medically-Relevant Genomic Structural Variation
October, 2016
American Society of Human Genetics, San Diego, CA
Clinically Relevant Structural Variations
March, 2016
Annual Clinical Genetics Meeting, Tampa, FL
De Novo Assembly and SV Detection of Human Genomes
February, 2016
Advances in Genome Biology and Technology, Orlando, FL
Complex Structural Variations and True Contiguity of de novo Assembly
February, 2016
Advances in Genome Biology and Technology, Orlando, FL
High-quality Assemblies
January, 2016
Plant and Animal Genome Conference XVII, San Diego, CA
Hummingbird Genome
January, 2016
Plant and Animal Genome Conference XVII, San Diego, CA
Fragile Site Repair
January, 2016
Plant and Animal Genome Conference XVII, San Diego, CA
rDNA Copy Number Variation
January, 2016
Plant and Animal Genome Conference XVII, San Diego, CA
Ultra-HMW DNA
January, 2016
Plant and Animal Genome Conference XVII, San Diego, CA
Structural variations, de novo assembly
October, 2015
American Society of Human Genetics, Baltimore, MD
Resizing N-Base Gaps
October, 2015
American Society of Human Genetics, Baltimore, MD
Analysis of HCC1143, inter-chromosomal translocation cells, CNV profiling
October, 2015
American Society of Human Genetics, Baltimore, MD
Amylase structural variants, Ashkenazi trio, SV calls
October, 2015
American Society of Human Genetics, Baltimore, MD
Hybrid scaffold, genome map assembly and complex insertions
October, 2015
American Society of Human Genetics, Baltimore, MD
Amylase variants, Ashkenazi trio and DNA absent from references.
May 2015 / June 2015
Biology of Genomes / European Society of Human Genetics, Cold Spring Harbor, NY (USA) / Glasgow (UK)
Copy-number profiles, translocation events and phasing.
May 2015 / June 2015
Biology of Genomes / European Society of Human Genetics, Cold Spring Harbor, NY (USA) / Glasgow (UK)
Pipeline overviews, hybrid scaffolds and complex insertions.
May 2015 / June 2015
Biology of Genomes / European Society of Human Genetics, Cold Spring Harbor, NY (USA) / Glasgow (UK)
CEPH Trio, multiple myeloma and prostate cancer.
April 2015 / June 2015
American Association for Cancer Research / European Society of Human Genetics, Philadelphia, PA (USA) / Glasgow (UK)
A closer look at how NanoChannel Arrays work and the effect they have on cancer genomes.
February, 2015
Biophysical Society, Baltimore, MD
Repeats in plant and animal genomes, SV calls in diploids, copy number variation and hybrid scaffolding.
February, 2015
Advances in Genome Biology and Technology, Marco Island, FL
Multiplexing, triplex forming oligo and epigenetic-state detection.
February, 2015
Advances in Genome Biology and Technology, Marco Island, FL
Integration events (YH genome), inheritance patterns (trio), breast cancer and CNV in tRNA.
February, 2015
Advances in Genome Biology and Technology, Marco Island, FL
SVs, CNV, unreferenced DNA, breast cancer.
November, 2014
Precision Medicine: Personal Genomes & Pharmacogenomics, Cold Spring Harbor, NY
De novo assemblies and structural variations in cancer genomes.
October, 2014
Beyond the Genome, Boston, MA
Hybrid scaffolding and assemblies of various genomes.
October, 2014
American Society of Human Genetics, San Diego, CA
Analysis of YH and trio samples.
October, 2014
American Society of Human Genetics, San Diego, CA
Long tandem repeats and copy number variation.
October, 2014
American Society of Human Genetics, San Diego, CA
De novo assemblies and structural variations in iPSC.
October, 2014
American Society of Human Genetics, San Diego, CA
Hybrid scaffolding, co-assembly and copy number profiles in cancer.
September, 2014
Human Genome Variation, Belfast, Ireland
Superscaffolding of Arabidopsis and de novo assembly of wheat (7DS).
September, 2014
Plant Genomics, St. Loius, MO
CNV validation, genome map assembly statistics and tandem repeats.
June, 2014
European Society of Human Genetics, Milan, Italy
Translocations, structural variation and CNV detection in multiple myeloma.
June, 2014
European Society of Human Genetics, Milan, Italy
Normalized copy number profiles, balanced translocations and complete genome characterization.
May, 2014
Sequencing, Finishing, Analysis in the Future, Santa Fe, NM
High throughput computing for de novo assembly.
May, 2014
Sequencing, Finishing, Analysis in the Future, Santa Fe, NM
Lp(A) repeat copy number diversity, multiple myeloma and MHC haplotype assembly.
May, 2014
Biology of Genomes, Cold Spring Harbor, NY
Structural variation discovery, MHC haplotype assembly, scaffolding de novo assembly and multiplexing.
February, 2014
Advances in Genome Biology and Technology, Marco Island, FL
De novo assembly of rice, Arabidopsis, wheat, and spider mite.
January, 2014
Plant and Animal Genome Conference XVII, San Diego, CA
Cancer structural variation, rearrangements, and pharmcogenomic variants in humans.
November, 2013
Precision Medicine: Personal Genomes & Pharmacogenomics, Cold Spring Harbor, NY
Human de novo assembly, multiple myeloma balanced translocation, genome-wide structural variation, and viral insertion localization.
October, 2013
American Society of Human Genetics, Boston, MA
Human structural variation detection, spanning gaps in hg19, scaffolding third gen sequencing, genome-wide SV detection, amplifications and expansions, and phasing of MHC variation.
June, 2013
European Society of Human Genetics, Paris, France
Assembly of variable rearranged regions in human (IGH and KIR), and Tribolium de novo genome scaffolding.
May, 2013
Sequencing, Finishing, Analysis in the Future, Santa Fe, NM
Human de novo assembly, genome-wide structural variation detection, super-scaffolding spider mite, scaffolding third gen sequencing, and wheat assembly using two-color data.
May, 2013
Biology of Genomes, Cold Spring Harbor, NY
Structural variation in humans, elucidating repetitive regions in yeast, and scaffolding broken genes in spider mite.
February, 2013
Advances in Genome Biology and Technology, Marco Island, FL
De novo assemblies of S. pombe, spider mite, and wheat (two-color).
January, 2013
Plant and Animal Genome Conference XXI, San Diego, CA
De novo assembly, scaffolding, and structural variation analysis of Drosophila.
November, 2012
American Society of Human Genetics, San Francisco, CA

Literature

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white papers
Bionano Genomics’ Next-Generation Mapping Identifies Large Structural Variants in Plant and Animal Genomes

This White Paper explains how NGS fails to adequately analyze repetitive parts of the genome and large structural variation. Bionano’s Next-Generation Mapping is able to detect all SV types with high sensitivity and specificity, and examples of biologically important large structural variants in plant and animal genomes are shown.

white papers
Bionano Genomics’ Next-Generation Mapping Identifies Large Structural Variants in Cancer and Genetic Disorders

This White Paper explains how NGS leaves half of patients with genetic disorders without a molecular diagnosis, because it fails to adequately analyze repetitive parts of the genome and large structural variation. Bionano’s Next-Generation Mapping is able to detect all SV types with high sensitivity and specificity, and examples of cancer and genetic disease are shown.

white papers
Hybrid Scaffolding Improves Genome Assembly Accuracy and Contiguity

This white paper explains how Bionano NGM can make any sequency assembly up to 100 times more contiguous by scaffolding sequence contigs, and more exact by correcting errors. The new two-enzyme hybrid scaffold pipeline introduced here improves both aspects. It creates functional genomes at a low cost, no matter what your sequencing strategy is.

white papers
Next-generation Mapping Enables Ideal Genome Assembly for Greater Duckweed

Scientists at Rutgers University, Washington University, and Ibis Biosciences successfully deployed Next-Generation Mapping (NGM) technology from Bionano Genomics to help produce the first complete assembly for a fast-growing aquatic plant with biofuel potential. What emerged is a clear view into a genome undergoing drastic reduction and a tool to elucidate chromosome-scale dynamics.

case studies
Assembling High Quality Human Genomes: Going Beyond the ‘$1,000 genome’

This Case Study demonstrates the power of combining 2 single molecule technologies to produce Gold-quality genomes. Those allow the discovery of substantial amount of structural variation unique to individuals and populations otherwise not accessed by other short-read technologies.

case studies
First Comprehensive View of Maize Genome Reveals Regulatory and Structural Mechanisms

This Case Study highlights Scientists at the USDA and Cold Spring Harbor Laboratory who know that better breeding of maize to feed a growing population will depend on an accurate reference assembly. They tackled the previously intractable crop with a combination of PacBio® Sequencing and BioNano Genomics®genome maps, leading to the first-ever high-quality reference assembly.

Datasets

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