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Publications

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Neurogenetic Variant Analysis by Optical Genome Mapping for Structural Variation Detection-Balanced Genomic Rearrangements, Copy Number Variants, and Repeat Expansions/Contractions
Genomic Structural Variants in Nervous System Disorders 2022
Barseghyan H, et al
Primary mediastinal large B-cell lymphoma is characterized by large-scale copy-neutral loss of heterozygosity
Genes, Chromosomes & Cancer 2022
Tuveri S, et al
Optical Genome Mapping Identifies a Novel Pediatric Embryonal Tumor Subtype with a ZNF532-NUTMI Fusion
medRxiv 2022
Bornhorst M, et al
Clinical Validation and Diagnostic Utility of Optical Genome Mapping in Prenatal Diagnostic Testing
medRxiv 2022
Sahajpal NS, et al
Dynamic Features of Chromosomal Instability during Culture of Induced Pluripotent Stem Cells
bioRxiv 2022
Dubose CO, et al
Tissue and cell-type specific molecular and functional signatures of 16p11.2 reciprocal genomic disorder across mouse brain and human neuronal models
bioRxiv 2022
Tai DJC, et al
Optical Genome Mapping for structural variation analysis in hematologic malignancies
American Journal of Hematology 2022
Smith AC, et al
Recurrent inversion polymorphisms in humans associate with genetic instability and genomic disorders
Cell 2022
Porubsky D, et al
Copy Number Analysis in a Large Cohort Suggestive of Inborn Errors of Immunity Indicates a Wide Spectrum of Relevant Chromosomal Losses and Gains
Journal of Clinical Immunology 2022
Wan R, et al
16p13.11p11.2 triplication syndrome: a new recognizable genomic disorder characterized by optical genome mapping and whole genome sequencing
European Journal of Human Genetics 2022
Nicolle R, et al
Evaluation of optical genome mapping for detecting chromosomal translocation in clinical cytogenetics
Molecular Genetics and Genomic Medicine 2022
Dai P, et al
Comprehensive Structural Variant Detection: From Mosaic to Population-Level
bioRxiv 2022
Smolka M, et al
Molecular characterization of myotonic dystrophy fibroblast cell lines for use in small molecule screening
iScience 2022
Jenquin JR, et al
Monitoring of Leukemia Clones in B-cell Acute Lymphoblastic Leukemia at Diagnosis and During Treatment by Single-cell DNA Amplicon Sequencing
HemaSphere 2022
Meyers S, et al
A t(6;14;9)(p22;q22;q34) three-way translocation: Description of a cytogeneetically visible variant t(6;9) in acute myeloid leukemia
American Journal of Hematology 2022
Smith A, et al.
Optical Genome Mapping: Clinical Validation and Diagnostic Utility for Enhanced Cytogenomic Analysis of Hematological Neoplasms
medRxiv 2022
Sahajpal NS, et al.
Multi-omics comparison of malignant and normal uveal melanocytes reveals novel molecular features of uveal melanoma
bioRxiv 2022
Gentien D, et al.
Automated assembly of high-quality diploid human reference genomes.
bioRxiv 2022
Jarvis ED, et al.
Characterization of PAX5 Intragenic Tandem Multiplication in Pediatric B-Lymphoblastic Leukemia by Optical Genome Mapping
Blood Advances 2022
Jean J, et al
Structure, dynamics and impact of replication stress-induced structural variants in hepatocellular carcinoma.
Cancer Research 2022
Bayard Q, et al.
Optical Genome Mapping Improves Genetic Diagnosis in Chronic Granulomatous Diseases.
Research Square 2022
Hui X, et al.
Curated variation benchmarks for challenging medically relevant autosomal genes.
Nature Biotechnology 2022
Wagner J, et al.
Optical Genome Mapping And Single Nucleotide Polymorphism Microarray: An Integrated Approach For Investigating Challenging Cases Of Products Of Conception.
medRxiv 2022
Sahajpal NS, et al.
Optimizing the diagnostic workflow for acute lymphoblastic leukemia by optical genome mapping.
American Journal of Hematology 2022
Rack K, et al.
Structural Variation Detection of Adolescent Thyroid Cancer Using Optical Mapping.
Research Square 2022
Yang L, et al.
Clinical Utility of Combined Optical Genome Mapping and 523-gene Next Generation Sequencing Panel For Comprehensive Evaluation of Myeloid Cancers.
medRxiv 2022
Sahajpal NS, et al.
Optical genome mapping identifies rare structural variations as predisposition factors associated with severe COVID-19.
ISCIENCE 2022
Sahajpal NS, et al.
MDS/MPN-Unclassifiable with t(X;17)(q28;q21) and KANSL1-MTCP1/CMC4 Fusion Gene.
Cytogenetic and Genome Research 2022
Molony P, et al.
Multi-site Technical Performance and Concordance of Optical Genome Mapping: Constitutional Postnatal Study for SV, CNV, and Repeat Array Analysis.
medRxiv 2021
Iqbal MA, et al.
Advancing genomic technologies and clinical awareness accelerates discovery of disease-associated tandem repeat sequences.
Genome Research 2021
Gall-Duncan T, et al.
Constitutional chromothripsis of the APC locus as a cause of genetic predisposition to colon cancer.
Journal of Medical Genetics 2021
Scharf F, et al.
African-specific prostate cancer molecular taxonomy.
Research Square 2021
Hayes V, et al.
Barcode aware adaptive sampling for Oxford Nanopore sequencers.
bioRxiv 2021
Payne A, et al.
Marfan Syndrome Caused by Disruption of the FBN1 Gene due to A Reciprocal Chromosome Translocation
Genes 2021
Schnause AC, et al.
Long read technologies identify a hidden inverted duplication in a family with choroideremia
Science Direct 2021
Fadaie Z. et al
Whole-genome optical mapping of bone-marrow myeloma cells reveals association of extramedullary multiple myeloma with chromosome 1 abnormalities
Scientific Reports 2021
Kriegova E. et al
Optical genome mapping identifies a germline retrotransposon insertion in SMARCB1 in two siblings with atypical teratoid rhabdoid tumors
The Journal of Pathology 2021
Sabatella M. et al
Simple Quantification of Epigenetic DNA Modifications and DNA Damage on Multi-Well Slides
Springer Protocols Handbooks 2021
Michaeli Y. et al
A full molecular picture of F8 intron 1 inversion created with optical genome mapping
Haemophilia 2021
Fahiminiya S. et al
Multicolor Whole-Genome Mapping in Nanochannels for Genetic Analysis
Analytical Chemistry 2021
Uppuluri L. et al
Optical genome mapping enables constitutional chromosomal aberration detection
The American Journal of Human Genetics 2021
Mantere T. et al
Next-generation cytogenetics: Comprehensive assessment of 52 hematological malignancy genomes by optical genome mapping
The American Journal of Human Genetics 2021
Neveling K. et al
Identification of unique variants as the underlying cause of IRD in pedigrees that remained unresolved after initial whole genome sequence analysis
Investigative Opthalmology & visual science 2021
Biswas P. et al
Towards a Comprehensive Variation Benchmark for Challenging Medically-Relevant Autosomal Genes
bioRxiv 2021
Wagner J et al
Comparison of structural variants detected by optical mapping with long-read next-generation sequencing
Bioinformatics 2021
Savara J. et al
Optical genome mapping, a promising alternative to gold standard cytogenetic approaches in a series of acute lymphoblastic leukemias
Genes Chromosomes Cancer 2021
Lestringant V. et al
Two SMARCAD1 Variants Causing Basan Syndrome in a Canadian and a Dutch Family
JID Innovations 2021
Elhaji Y. et al
Detection of a mosaic CDKL5 deletion and inversion by optical genome mapping ends an exhaustive diagnostic odyssey
Molecular Genetics & Genomic Medicine 2021
Cope H. et al
Application of Full Genome Analysis to Diagnose Rare Monogenic Disorders
npj genomic medicine 2021
Shieh J. et al
Haplotype-resolved diverse human genomes and integrated analysis of structural variation
Science 2021
Ebert P. et al
Optical Genome Mapping as a Next-Generation Cytogenomic Tool for Detection of Structural and Copy Number Variations for Prenatal Genomic Analyses
Genes 2021
Sahajpal N. et al
Identification of Somatic Structural Variants in Solid Tumors By Optical Genome Mapping
Journal of Personalized Medicine 2021
Goldrich D. et al
Hepatitis B virus integrations promote local and distant oncogenic driver alterations in hepatocellular carcinoma
Gut 2021
Péneau C. et al
Long Reads Capture Simultaneous Enhancer-Promoter Methylation Status for Cell-type Deconvolution
bioRxiv 2021
Margalit S. et al
Transcriptome Alterations in Myotonic Dystrophy Frontal Cortex
Cell Reports 2021
Otero B. et al
Application of Optical Genome Mapping For Comprehensive Assessment of Chromosomal Structural Variants for Clinical Evaluation of Myelodysplastic Syndromes
medRxiv 2021
Yang H. et al
Host genome analysis of structural variations by Optical Genome Mapping provides clinically valuable insights into genes implicated in critical immune, viral infection, and viral replication pathways in patients with severe COVID-19
medRxiv 2021
Sahajpal N. et al
Genomic regions associated with microdeletion/microduplication syndromes exhibit extreme diversity of structural variation
Genetics 2021
Mostovoy Y. et al
Characterization of an unbalanced translocation causing 3q28qter duplication and 10q26.2qter deletion in a patient with global developmental delay and self-injury
Cold Spring Harbor Molecular Case Studies 2020
Osei-Owusu I. et al
Hybrid sequencing resolves two germline ultra-complex chromosomal rearrangements consisting of 137 breakpoint junctions in a single carrier
Human Genetics 2020
Eisfeldt J. et al
Single-molecule telomere length characterization by optical mapping in nano-channel array: Perspective and Review on Telomere Length Measurement
Environmental Toxicology and Pharmacology 2020
Uppuluri L. et al
Unbiased optical mapping of telomere-integrated endogenous human herpesvirus 6
PNAS 2020
Wight D. et al
Customized optical mapping by CRISPR-Cas9 mediated DNA labeling with multiple sgRNAs
Nucleic Acids Research 2020
Abid H. et al
A National Multicenter Evaluation of the Clinical Utility of Optical Genome Mapping for Assessment of Genomic Aberrations in Acute Myeloid Leukemia
medRxiv 2020
Levy B. et al
Human-specific expansion of 22q11.2 low copy repeats
bioRxiv 2020
Vervoort L. et al
Towards a reference genome that captures global genetic diversity
Nature 2020
Wong K. et al
A multi-platform reference for somatic structural variation detection
bioRxiv 2020
Valle-Inclan J. et al
Distinct Classes of Complex Structural Variation Uncovered across Thousands of Cancer Genome Graphs
Cell 2020
Hadi K
Long-read sequencing for non-small-cell lung cancer genomes
Genome Research 2020
Sakamoto Y. et al
AmpliconReconstructor integrates NGS and optical mapping to resolve the complex structures of focal amplifications
Nature 2020
Luebeck J et al
A Practical Guide for Structural Variation Detection in the Human Genome
Current Protocols 2020
Yang L.
Identification of a likely pathogenic structural variation in the LAMA1 gene by Bionano optical mapping
NPJ Genomic Medicine 2020
Chen M et al
Advances in optical mapping for genomic research
Computational and Structural Biotechnology Journal 2020
Yuan Y. et al
Next generation cytogenetics: genome-imaging enables comprehensive structural variant detection for 100 constitutional chromosomal aberrations in 85 samples
bioRxiv 2020
Mantere T et al
A robust benchmark for detection of germline large deletions and insertions
Nature Biotechnology 2020
Zook JM et al
Recurrent inversion toggling and great ape genome evolution
Nature 2020
Porubsky D. et al
Precise breakpoint detection in a patient with 9p– syndrome
CSH Molecular Case Studies 2020
Ng J et al
Long-read human genome sequencing and its applications
Nature 2020
Logsdon G. et al
Comprehensive phenotyping of neuropsychiatric traits in a multiplex 3q29 deletion family: a case report
BMC Psychiatry 2020
Murphy M. et al
Identification of Structural Variation in Chimpanzees Using Optical Mapping and Nanopore Sequencing
Genes (Basel)  2020
Soto DC et al
Genomic and transcriptomic analyses reveal a tandem amplification unit of 11 genes and mutations of mismatch repair genes in methotrexate-resistant HT-29 cells
bioRxiv 2020
Kim A et al
Next generation cytogenetics: comprehensive assessment of 48 leukemia genomes by genome imaging
bioRxiv 2020
Neveling K et al
Analysis of balanced reciprocal translocations in patients with subfertility using single-molecule optical mapping.
J Assist Reprod Genetics 2020
Wang H et al
Comprehensive Analysis of Human Subtelomeres by Whole Genome Mapping.
PLoS Genetics 2020
Young E et al
Natural copy number differences of tandemly repeated small nucleolar RNAs in the Prader-Willi syndrome genomic region regulate individual behavioral responses in mammals
bioRxiv 2020
Keshavarz M et al
Structural variant identification and characterization
Chromosome Research 2020
Balachandran P. et al
Challenges in identifying large germline structural variants for clinical use by long read sequencing
Computational and Structural Biotechnology Journal 2020
Bizjan B. et al
Comprehensive Detection of Germline and Somatic Structural Mutation in Cancer Genomes by Bionano Genomics Optical Mapping
J Biomol Tech 2019
Pang AWC et al
The Driver of Extreme Human-Specific Olduvai Repeat Expansion Remains Highly Active in the Human Genome
Genetics 2019
Heft IE et al
Circular ecDNA promotes accessible chromatin and high oncogene expression
Nature 2019
Wu S et al
Rapid prenatal diagnosis of Facioscapulohumeral Muscular Dystrophy 1 by combined Bionano optical mapping and karyomapping
Prenat Diagn 2019
Zheng Y et al
Single-molecule optical mapping enables quantitative measurement of D4Z4 repeats in facioscapulohumeral muscular dystrophy (FSHD)
J Med Genet 2019
Dai Yi et al
The 22q11 low copy repeats are characterized by unprecedented size and structure variability
Genome Research 2019
Demaerel W et al
De novo assembly of a Tibetan genome and identification of novel structural variants associated with high altitude adaptation
bioRxiv 2019
Ouzhuluobu et al
Telomere-to-telomere assembly of a complete human X chromosome
bioRxiv 2019
Miga KH et al
OMMA enables population-scale analysis of complex genomic features and phylogenomic relationships from nanochannel-based optical maps.
GigaScience 2019
Leung AK et al
Whole Genome Analyses of Chinese Population and De Novo Assembly of A Northern Han Genome
Genomics Proteomics Bioinformatics 2019
Du Z et al
Multi-platform discovery of haplotype-resolved structural variation in human genomes
Nature Genetics 2019
Chaisson MJP et al
Genomic inversions and GOLGA core duplicons underlie disease instability at the 15q25 locus
PloS Genetics 2019
Maggiolini FAM et al
Long-read single-molecule maps of the functional methylome
Genome Research 2019
Sharim H et al
Application of Karyomapping for the prenatal diagnosis of five families affected with facioscapulohumerial muscular dystrophy type 1
 2019
Zheng Y et al

Videos

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Posters

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Identifying Polymorphic Variants at Complex Regions Using Optical Mapping
March, 2021
AGBT 2021, Virtual Conference
Optical mapping enables high-throughput analysis of pathogenic repeats
November 18, 2020
Association for Molecular Pathology 2020, Virtual Conference
Rapid Isolation of high quality ultra-high molecular weight (UHMW) genomic DNA (gDNA) from blood, bone marrow aspirates (BMAs) and fresh frozen human tumors
November 18, 2020
Association for Molecular Pathology 2020, Virtual Conference
Utilization of Dual-Label Optical Genome Mapping for Genetic/Epigenetic Diagnosis
February, 2020
AGBT 2020, Marco Island, Florida
A Comprehensive Multi-Platform Approach for Structural Variant Analysis in a Clinical Cohort of Cancer Patients
February, 2020
AGBT 2020, Marco Island, Florida
Deciphering genomic inversion events using optical mapping
February, 2020
AGBT 2020, Marco Island, Florida
AmpliconReconstructor: Integrated Analysis of NGS and optical mapping resolves the complex structures of focal amplifications in cancer
February, 2020
AGBT 2020, Marco Island, Florida
Isolating High-Quality Ultra-High Molecular Weight (UHMW) Genomic DNA (gDNA) from 5-10 mg of Fresh Frozen Animal and Human Tissues
January, 2020
PAG 2020, San Diego, CA
Bionano Hybrid Scaffold Assemblies Provide High Contiguity and Accuracy
January, 2020
PAG 2020, San Diego, CA
Identifying Parental Alleles with Bionano Genomics’ Ultra-High Molecular Weight DNA
January, 2020
PAG 2020, San Diego, CA
Chromosome Banding Analysis vs Genomic Microarrays: A Comparison of Methods for Genomic Complexity Risk Stratification in Chronic Lymphocytic Leukemia Patients with Complex Karyotype
December, 2019
ASH 2019, Orlando, FL
Next-generation Cytogenetics: High-resolution Optical Mapping to Replace FISH, Karyotyping and CNV-microarrays
November, 2019
AMP Annual Meeting, Baltimore, MD
Detection of Genomic Structural Variation in Primary and Metastatic Ovarian Cancer Using a Novel Genome Wide High-Resolution Optical Mapping Approach
November, 2019
AMP Annual Meeting, Baltimore, MD
Comprehensive Analysis of Structural Variants in Clinical Cancer Samples
October, 2019
ASHG, Houston, TX
Comprehensive Detection of Germline and Somatic Structural Mutation in Cancer Genomes by Bionano Genomics Optical Mapping
October, 2019
ASHG, Houston, TX
High Throughput Analysis of Tandem Repeat Contraction Associated with Facioscapulohumeral Muscular Dystrophy (FSHD) by Optical Mapping
October, 2019
ASHG, Houston, TX
Bionano Genomics “Sample to Answer” Workflow for Single Molecule Analysis of Variation in Genome Structure
October, 2019
ASHG, Houston, TX
Bionano Prep SP Isolates High Quality Ultra-high Molecular Weight (UHMW) Genomic DNA to Improve Research of Cancer and Undiagnosed Disorders
October, 2019
ASHG, Houston, TX
Detection, Characterization and Breakpoint Refinement of Balanced Rearrangements by Optical Mapping in Clinical Cases
October, 2019
ASHG, Houston, TX
Optical Genome Mapping for Detection of Structural Variants in Constitutional Disease
September, 2019
AGBT Precision Health, San Diego, CA
Comprehensive Detection of Germline and Somatic Structural Mutation in Cancer Genomes by Bionano Genomics Optical Mapping
September, 2019
AGBT Precision Health, San Diego, CA
Contiguous Assembly of Bionano DLS Chemistry Reveals Structural Variants at Challenging Regions
September, 2019
AGBT Precision Health, San Diego, CA
Bionano Genomics “Sample to Answer” Workflow for Single Molecule Analysis of Variation in Genome Structure
September, 2019
AGBT Precision Health, San Diego, CA
Sensitive Detection of Low-allele Fraction Structural Variants in Clinical Cancer Samples
June, 2019
ESHG, Gothenburg, Sweden
Optical Genome Mapping for Detection of Structural Variants in Constitutional Disease
June, 2019
ESHG, Gothenburg, Sweden
Next Generation Cytogenetics in Medical Genetics with High-resolution Optical Mapping
June, 2019
ESHG, Gothenburg, Sweden
Comprehensive Detection of Germline and Somatic Structural Mutation in Cancer Genomes by Bionano Genomics Optical Mapping
June, 2019
ESHG, Gothenburg, Sweden
Solution-based Isolation of Ultra-high Molecular Weight (UHMW) Genomic DNA from Fresh/Frozen Human Blood and Cultured Cells in Less than 4 Hours
June, 2019
ESHG, Gothenburg, Sweden
Evaluation of the Bionano Optical Mapping Technology as a Replacement of Conventional Cytogenetics in a Diagnostic Setting
June, 2019
ESHG, Gothenburg, Sweden
A Novel Method for Isolating High-Quality UHMW DNA from 10 mg of Freshly Frozen or Liquid-Preserved Animal and Human Tissue Including Solid Tumors
April, 2019
AACR, Atlanta, GA
Comprehensive Structural Analysis of Cancer Genomes by Genome Mapping​
April, 2019
AACR, Atlanta, GA
Comprehensive Detection of Germline and Somatic Structural Mutation in Cancer Genomes by Bionano Genomics Optical Mapping​
April, 2019
AACR, Atlanta, GA
Bionano Hybrid Scaffold Assemblies Provide High Contiguity and Accuracy
January 2019
PAG, San Diego, CA
Solution-based Isolation of Ultra-High Molecular Weight Genomic DNA from 0.2-0.5 mL of Frozen Human Blood (1.5 million WBCs) in less than 3 Hours
October 2018
ASHG, San Diego, CA
Hybrid Scaffolding with Bionano Genomics DLS Assemblies Provides High Contiguity and Corrects Errors in Sequence Assemblies
October 2018
ASHG, San Diego, CA
Sensitive Detection of Low-allele Fraction Structural Variants in Clinical Cancer Samples
October 2018
ASHG, San Diego, CA
Comprehensive Detection of Germline and Somatic Structural Mutation in Cancer Genomes by Bionano Genomics Optical Mapping
October 2018
ASHG, San Diego, CA
Building High Quality, Chromosome-Scale, De Novo Genome Assemblies by Scaffolding Next-Generation Sequencing Assemblies with Bionano Genome Maps
February, 2018
Advances in Genome Technology and Biology, Orlando, Fl
Broad Range Chromosomal Abnormality Detection through Bionano Genome Mapping
February, 2018
Advances in Genome Biology and Technology, Orlando, Fl
Labeling Human DNA with Bionano’s Direct Labeling Enzyme Avoids Nickase-Based Double-Stranded Breaks and Allows for Chromosome-Arm Length Assemblies
February, 2018
Advances in Genome Biology and Technology, Orlando, Fl
Efficient Structural Variation Detection and Annotation Using Bionano Genome Mapping
February, 2018
Advances in Genome Biology and Technology, Orlando, Fl
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
De novo assembly of Chinese honey bee and Gandoerma Sinesis.
January, 2015
Plant and Animal Genome XXIII, San Diego, CA
Repeats in plants and animals, intact long tandem repeat arrays.
January, 2015
Plant and Animal Genome XXIII, San Diego, CA
Model parameters, copy number profiles, heterozygous deletion.
January, 2015
Plant and Animal Genome XXIII, San Diego, CA
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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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.

case studies
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.

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