ASHG: An Oxford Nanopore guide to ASHG
If you are in San Diego at this week's ASHG meeting, please come and visit us at booth 435. We will have PromethION, GridION and MinION on display and a range of technology and application experts to answer all your questions.
The following speakers have been confirmed and there will be drinks afterwards:
- Whole Genome Sequencing Analysis of Rare Variants in 475 Individuals with Neurodevelopmental Disorders. Alba Sanchis-Juan, University of Chicago
- High-throughput repeat expansion sequencing on PromethION: An ABCA7 VNTR case study. Arne De Roeck, VIB - University of Antwerp
- Human structural variation identified by Oxford Nanopore PromethION. Wouter De Coster, VIB - University of Antwerp
- Nanopore accuracy; overtaking the competition... Clive G. Brown, CTO, Oxford Nanopore Technologies Ltd.
If you are interested in finding out more about the use of Oxford Nanopore technology in human genetics, you can download our white paper or browse relevant publications.
If you are visiting the poster sessions, you can find out more about how Oxford Nanopore technology is being used in human genetics:
| WEDNESDAY 17TH OCT | |
| Time 2:00 pm - 3:00 pm PgmNr 1551/WDetecting structural variants from Oxford Nanopore sequencing using signal-level data. | Doruk Beyter, deCODE genetics |
| Time 2:00 pm - 3:00 pm PgmNr 1803/WGenerating high-quality reference human genomes using PromethION nanopore sequencing. | Miten Jain, University of California Santa Cruz |
| Time 3:00 pm - 4:00 pm | Arne De Roeck, VIB – UAntwerp |
| Time 3:00 pm - 4:00 pm PgmNr 2856/WDetection of GBA missense mutations and other variants using the Oxford Nanopore MinION. | Christos Proukakis, Institute of Neurology, University College London |
| THURSDAY 18TH OCT | |
| Time 2:00 pm - 3:00 pm PgmNr 1639/TGenome-wide structural variant identification from PromethION long read sequencing data. | Wouter De Coster, VIB – UA |
| Time 2:00 pm - 3:00 pm PgmNr 419/TComposite de novo Armenian human genome assembly and haplotyping via optical mapping and ultra-long read sequencing. | Hayk Barseghyan, Children’s National Medical Center |
| Time 3:00 pm - 4:00 pm | Arne De Roeck, VIB – UAntwerp |
| Time 3:00 pm - 4:00 pm PgmNr 2856/WDetection of GBA missense mutations and other variants using the Oxford Nanopore MinION. | Christos Proukakis, Institute of Neurology, University College London |
| FRIDAY 19TH OCT | |
| Time 2:00 pm - 3:00 pm PgmNr 1639/TGenome-wide structural variant identification from PromethION long read sequencing data. | Wouter De Coster, VIB – UA |
| Time 3:00 pm - 4:00 pm PgmNr 1166/FWhole genome sequencing analysis of rare variants in 475 individuals with neurodevelopmental disorders. | Alba Sanchis-Juan, University of Cambridge |
| Time 3:00 pm - 4:00 pm | Arne De Roeck, VIB – UAntwerp |
| Time 3:00 pm - 4:00 pm PgmNr 2856/WDetection of GBA missense mutations and other variants using the Oxford Nanopore MinION. | Christos Proukakis, Institute of Neurology, University College London |