May 18, 2016  |  General

Discover New Insights into Human Genetic Variation at ESHG in Barcelona

The PacBio team is looking forward to joining 3,000 other scientists in Barcelona May 21-24 for the European Human Genetics Conference, better known as ESHG.  Organized by the European Society of Human Genetics, this is the 49th year of a high-quality meeting where the latest developments in human and medical genetics are discussed.
This year, we’ll be showcasing our new Sequel System at booth #260 in the exhibit hall. Come visit us and learn more about it! With higher throughput than our previous instrument, we think the Sequel System will be a great fit for the genomics community on projects such as multiplex targeted sequencing and RNA isoform sequencing.
To learn how scientists are already using PacBio sequencing to address unanswered questions in genomics, don’t miss the SMRT Sequencing workshop hosted by Roche Sequencing. The luncheon event will be held on Monday, May 23, from 11:15 a.m. to 12:45 p.m. in rooms 120 and 121. Christine Beck from Baylor College of Medicine will discuss the use of long fragment capture and sequencing techniques to reveal structural variation at clinically relevant loci. Robert Sebra from the Icahn School of Medicine at Mount Sinai will discuss how his lab uses long-read sequencing to gain a more comprehensive view of complex regions of the genome, including pharmalogically important sites, oncogenes, and structural variants linked to genetic disease.
There will also be ESHG talks and posters featuring SMRT Sequencing data in a wide range of applications, including whole genome assembly and haplotyping, immunology, repeat expansion disorders, and non-coding RNAs. Please join us at the following presentations:
Saturday, May 21, 2016, 10:30 a.m. – 12:00 p.m.
Talk Title: E01.1 Long-read sequencing of complex genomes
Speaker: Evan Eichler, University of Washington
Saturday, May 21, 2016, 6:30 p.m. – 8:00 p.m.
Talk Title: A distinct class of chromoanagenesis events characterized by focal copy number gains
Speaker: Matthew Hestand, Leuven, Belgium
Sunday, May 22, 2016, 1:00 p.m. – 2:30 p.m.
Talk Title: Enrichment of unamplified DNA and long-read SMRT Sequencing to unlock repeat expansion disorders
Speaker: Tyson Clark, Pacific Biosciences
Sunday, May 22, 2016, 1:00 p.m. – 2:30 p.m.
Talk Title: C07.6 – Detection of AGG interruptions in FMR1 premutation females by single-molecule sequencing
Speaker: S. Ardui, KU Leuven
Monday, May 23, 2016, 8:30 a.m. – 10:00 a.m.
Talk Title: S11.3 – Mapping Human Long Noncoding RNAs
Speaker: Rory Johnson, Barcelona, Spain
Tuesday, May 24, 2016, 11:00 a.m. – 12:30 p.m.
Talk Title: C23.6 – Identifying novel long non-coding RNAs in the Human genome.
Speaker: M. P. Hardy, Wellcome Trust Sanger Institute
Saturday, May 21, 12:00 p.m. – 2:00 p.m.
Monday, May 23, 10:15 a.m. – 11:15 a.m.
Presentation: P16.07C – Application Specific Barcoding Strategies for SMRT Sequencing
Saturday, May 21, 12:00 p.m. – 2:00 p.m.
Sunday, May 22, 4:45 p.m. – 5:45 p.m.
Presentation: P16.02B – Highly Contiguous de novo Human Genome Assembly and Long-Range
Haplotype Phasing Using SMRT Sequencing
Sunday, May 22, 10:15 a.m. – 11:15 a.m.
Presentation: P07.17A – Resolving KIR genotypes and haplotypes simultaneously using Single-
Molecule, Real-Time Sequencing
Sunday, May 22, 4:45 p.m. – 5:45 p.m.
Presentation: P15.14B – Full-length and phased CYP2D6 variant genotyping using the PacBio RS II

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