Bionano will be present in full force at the upcoming American Society of Human Genetics (ASHG) Annual Meeting, October 17 to 21 in Orlando, Florida.  We have a brand new booth (#555), an exciting workshop, and over a dozen scientists are presenting data generated with Bionano – studies on a scale we haven’t seen before.

This year, we are presenting Saphyr, our most advanced system for genome mapping.  Saphyr has roughly 10 times the throughput of its predecessor, allowing it to generate sufficient data in one day to map up to two human genomes. This increase in throughput enables larger scale studies like the ones presented at this conference.

You don’t want to miss our workshop on Friday. This year, it is led by prominent genomics researchers, Dr. Jim Broach from Penn State University, Dr. Vanessa Hayes from the Garvan Institute, and Dr. Hayk Barseghyan from Children’s National Medical Center. The discovery of structural variations using Bionano mapping in cancer and other genetic diseases will be presented:

Solved with Bionano: How Order and Orientation Help Understand Genetic Disease.

  • Date, Time: Friday, October 20, 1:00 pm – 2:15 pm
  • Location: Hilton Orlando, Lake Mizell, Lobby Level

 

Over a dozen different scientists are presenting Bionano data including:

Oral Presentations

Oral Session 80: Next-Generation Mapping (NGM): A novel approach for genetic diagnosis of structural variants.

  • Presenting Author:  Hayk Barseghyan
  • Session:  #18: Strategies for Variant Interpretation
  • Date, Time:  Wednesday, October 18, 11:45 am – 12:00 pm
  • Location:  Room 230G – Level 2/Convention Center

 

Oral Session 26: Single-molecule mapping of complex genomic regions across 26 human populations reveals population specific variation patterns.

  • Presenting Author: Pui-Yan Kwok
  • Session: #9: Genome Structure and Function: The Contribution of Mutations to Human Genetic Diversity, Disease, and Evolutionvariation patterns.
  • Date, Time: Wednesday, October 18, 9:45 am – 10 am
  • Location: Room 230G – Level 2/Convention Center

 

Poster Presentations:

Poster #1501/W: Comprehensive discovery of genomic variation from the integration of multiple sequencing and discovering technologies.

  • Presenting Author:  Zhao
  • Session:  Omics Technologies
  • Date/Time: Wednesday, October 18, 2:00 pm – 4:00 pm

 

Poster #2293/W: De novo genomic assembly and assessment of inbreeding in a severe bottleneck population.

  • Presenting Author:  A.F. Scott
  • Session: Evolution and Population Genetics
  • Date/Time: Wednesday, October 18, 2:00 pm – 4:00 pm

 

Poster #808/W: Optical mapping reveals a higher level of chained fusion events in human cancer.

  • Presenting Author:  Vanessa Hayes, Ph.D., Lab Head of Human Comparative and Prostate Cancer Genomics, Garvan Institute of Medical Research
  • Session: Cancer Genetics
  • Date/Time: Wednesday, October 18, 3:00 pm – 4:00 pm

 

Poster #946/W: Characterization of a complex translocation causing 3q28ter duplication and 10q26.2ter deletion in a child with self-injurious behavior.

  • Presenting Author:  Ikeoluwa Adeshina
  • Session: Mendelian Phenotypes
  • Date/Time:   Wednesday, October 18, 3:00 pm – 4:00 pm.

 

Poster #1487/T: Disease Relevant Structural Variation Analysis by Bionano Mapping.

  • Presenting Author:  Alex Hastie
  • Session:  Omics Technologies
  • Date/Time: Thursday, October 19, 2:00 pm – 3:00 pm

 

Poster #806/T: An integrative detection and analysis of structural variation in cancer genomes.

  • Presenting Author:  J Xu
  • Session: Cancer Genetics
  • Date/Time: Thursday, October 19, 2:00 pm – 4:00 pm

 

Poster #1520/T: Automation of Ultra-High Molecular Weight DNA Isolation and Labeling for Genome Mapping.

  • Presenting Author: Pat Lynch
  • Session: Omics Technologies
  • Date/Time: Thursday, October 19, 3:00 pm – 4:00 pm

 

Poster #788/T: Use of Bionano Genome Maps to Identify Medically-Relevant Genomic Variation.

  • Presenting Author: Andy Pang
  • Session:  Cancer Genetics
  • Date/Time: Thursday, October 19, 3:00 pm – 4:00 pm

 

Poster #2582/T: Structural variant detection with optical mapping and microfluidic partitioning: A t(9;13) case report.

  • Presenting Author:  Dustin Baldridge
  • Session: Molecular and Cytogenetic Diagnostics
  • Date/Time: Thursday, October 19, 3:00 pm – 4:00 pm

 

Poster #2526/F: Investigating complex structural variants using third generation genome sequencing and mapping technologies.

  • Presenting Author: R Rajagopalan
  • Session: Molecular and Cytogenetic Diagnostics
  • Date/Time: Friday, October 20, 11:30 am – 1:30 pm

 

Poster #405/F: Revisiting the mouse reference genome: Single molecule sequencing of C57BL/6J “Eve”.

  • Presenting Author: A Srivastava
  • Session:  Genome Structure and Function
  • Date/Time: Friday, October 20, 11:30 am – 1:30 pm

 

Poster #423/F: Updates to the human reference genome assembly (GRCh38).

  • Presenting Author: T Rezaie
  • Session:  Genome Structure and Function
  • Date/Time: Friday, October 20, 11:30 am – 1:30 pm

 

Poster #1032/F: Combining Bionano and exome sequencing identifies a homozygous structural variation in the novel AGBL3 gene underlying microcephaly.

  • Presenting Author: Denice Belandres
  • Session:  Mendelian Phenotypes
  • Date/Time:  Friday, October 20, 12:30 pm – 1:30 pm

 

Poster #1332/F: An alignment-based approach for sensitively detecting SVs using optical maps data.

  • Presenting Author: Xian Fan
  • Session: Bioinformatics and Computational Approaches
  • Date/Time: Friday, October 20, 12:30 pm – 1:30 pm

 

Come see us at booth 555 in the exhibit hall. We look forward to see you in Orlando!

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