Oxford Nanopore at ASHG 2017

Since ASHG last year, the MinION has been used to sequence human genomes (and also large plant genomes), the higher-throughput GridION and PromethION have emerged, new direct RNA and cDNA sequencing kits have been launched and we have started a developer programme for targeted enrichment. Throughput and accuracy levels have escalated, and with all of these developments, new publications around human genetics have been emerging. There will be lots to talk about if you would like to visit us on booth #649. If you aren't at ASHG, visit our human genetics web page or read down.

At the booth: #649

• Meet the family of nanopore devices – including the GridION™ X5 – run up to 5 Flow Cells, with embedded compute.

• Meet the nanopore team, who can answer your questions about the technology and your applications

• Browse the Resource centre to find out how others are using nanopore sequencing for human genetics research, including improving the human genome assembly, assembling centromeres, HLA typing and same-day genomic and epigenomic analysis of brain tumors.

• Grab a copy of our recent white papers offering new insights into large genomes and structural variation.

• Pick up some of our posters - New today: an RNA poster showing very low %GC bias and lower requirements for total data and number of reads

• Enter our competition to win a MinION starter pack

Around the conference: Talks and posters from nanopore users

Talks

• An intronic ABCA7 tandem repeat affects Alzheimer’s disease, gene expression, and alternative splicing. Session004: Tuesday 17 October, 6:10pm - 6:30pm, South Hall B - Level 1/Convention Center.

• Human immune defense mechanisms drive rapid genome evolution in vaccinia virus. Session009: Wednesday 18 October, 10:15am - 10:30am, Room 230G - Level 2/Convention Center

• Mapping and phasing of structural variation in patient genomes using nanopore sequencing. Session022: Wednesday 18 October, 12:15pm - 12:30pm, Room 330A - Level 3/Convention Center

• Rapid structural event characterization of clinical cancer samples on the Oxford Nanopore MinION. Session047: Thursday 19 October, 4:45pm - 5:15pm, Room 310A - Level 3/Convention Center

Posters – visit the ASHG web page to search for abstract text

• ALEC - Amplicon Long-read Error Correction for targeted long-read sequencing

• Enrichment of long reads for Mendelian disease using the Oxford Nanopore MinION

• Nanopore full length mRNA sequencing resolves transcript structure in single auditory hair cells • Long read capture sequencing for clinical applications

• Heterogeneity of human ribosomes inferred from rDNA and rRNA sequencing

• MethylHiC reveals long-range genetic-epigenetic and epigenetic-epigenetic interactions within the same single molecule

Oxford Nanopore evening event – Evening reception

Join us on Thursday, 19th October, for an evening of drinks, food, and research updates on human genetics and RNA sequencing from nanopore users. You can talk to nanopore staff about getting the most out of your flow cells, including hands-on practice. Researchers Chia-Lin Wei, Wilfried Haerty and Svetlana Madjunkova will also be presenting their latest research.