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ASHG: An Oxford Nanopore guide to ASHG

Tue 16th October 2018

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 studyArne De Roeck, VIB - University of Antwerp
  • Human structural variation identified by Oxford Nanopore PromethIONWouter 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
PgmNr 388/WHigh-throughput repeat expansion sequencing on PromethION: An ABCA7 VNTR case study.

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
PgmNr 388/WHigh-throughput repeat expansion sequencing on PromethION: An ABCA7 VNTR case study.

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
PgmNr 388/WHigh-throughput repeat expansion sequencing on PromethION: An ABCA7 VNTR case study.

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
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