FINAL PROGRAMME

SMRT SCIENTIFIC SYMPOSIUM - 12 & 13 JUNE 2018

TUESDAY, JUNE 12

WEDNESDAY, JUNE 13

08:15 - 08:45

Welcome & Registration

08:45 - 09:00

Opening Remarks

08:30 - 09:00

Welcome & Registration

KEYNOTE

09:00 - 10:00

The Bat1k project: bat genomes, biology and implications

SONJA VERNES

- MPI Psycholinguistics, Netherlands

KEYNOTE

09:00 - 10:00

Understanding tandem repeats and DNA methylation using SMRT sequencing

SHINICHI MORISHITA

- University of Tokyo, Japan

10:00 - 10:20

Coffee Break

10:00 - 10:20

Coffee Break

LECTURE

10:20 - 10:50

Perfect genome is a treasure; DNA is the key

OLGA VINNERE PETTERSSON

- Uppsala University, Sweden

LECTURE

10:20 - 10:50

SMRT-Cappable-seq reveals complex operon variants in bacteria

LAURENCE ETTWILLER

- New England Biolabs, USA

LECTURE

10:50 - 11:20

Using new Aspergillus genomes for linking compounds to clusters

INGE KJAERBOLLING

- Denmark Tech. University, Denmark

LECTURE

10:50 - 11:20

Long-read SMRT amplicon sequencing applications in human genetics

STUART SCOTT

- Icahn School of Medicine, USA

LECTURE

11:20 - 11:50

Targeted genomic enrichment and SMRT sequencing of immune-related gene complexes

JOHN HAMMOND

- The Pirbright Institute, UK

LECTURE

11:20 - 11:50

Detection of low-frequent mitochondrial DNA variants using SMRT sequencing

MARJOLEIN WEERTS

- Erasmus MC, Netherlands

BEST ABSTRACT

11:50 - 12:10

Targeted PacBio sequencing of wild zebrafish immune gene families

JAANUS SUURVALI

- University of Cologne, Germany

LECTURE

11:50 - 12:20

Calling all variants: fast, accurate, population-scale structural variant analysis

ARMIN TOEPFER

- PacBio, Germany

HIGHLIGHTS

12:10 - 12:30

Poster Highlights

C AHRENS - OP SMOLANDER - L MARCOLUNGO - I HOIJER

SPONSOR

12:20 - 12:30

TBA

Sage Science

12:30 - 13:50

Lunch & Networking

12:30 - 13:50

Lunch & Networking

KEYNOTE

13:50 - 14:50

Thirsting for blood and water: chromosome-scale genome assembly and genetic tools for studying behavior in the mosquito Aedes aeygpti

BEN MATTHEWS

- The Rockefeller University, USA

KEYNOTE

13:50 - 14:50

Medical genetics: Identification of hidden structural variants with long-read sequencing

ALEX HOISCHEN

- Radboud UMC, Netherlands

14:50 - 15:10

Coffee Break

14:50 - 15:10

Coffee Break

LECTURE

15:10 - 15:40

Long DNA molecule sequencing from de novo assembly to chromosome level scaffolding of plant genomes

MOHAMED ZOUINE

- INRA/INP Toulouse, France

LECTURE

15:10 - 15:40

Long read technologies provides novel insight into the diversity of the MHC in Africa

MARTIN POLLARD

- Wellcome Trust Sanger Institute, UK

LECTURE

15:40 - 16:10

From contigs to chromsomes, Hi-C proximity guided assembly

ZEV KRONENBERG

- Phase Genomics, USA

LECTURE

15:40 - 16:10

Dissecting ATXN-10 repeat expansions by PacBio Cas9-based capture/SMRT sequencing

BIRGITT SCHUELE

- Parkinson's Institute, USA

LECTURE

16:10 - 16:40

Beyond genome annotation: Using Iso-Seq to phase and evaluate genome assemblies

LIZ TSENG

- PacBio, USA

LECTURE

16:10 - 16:40

Precision Therapeutics: the ups and downs of drug metabolism

YAHYA ANVAR

- LUMC, Netherlands

16:40 - 17:00

Coffee Break

16:40 - 17:00

Coffee Break

KEYNOTE

17:00 - 18:00

Characterization of maize genetic and transcript variation using hybrid sequencing

DOREEN WARE

- USDA ARS & CSHL, USA

KEYNOTE

17:00 - 18:00

Multi-platform discovery of haplotype-resolved structural variation in human genomes

CHARLES LEE

- The Jackson Laboratory, USA

18:30 - 20:00

Conference Drinks & Networking Mixer

SMRT INFORMATICS DEVELOPERS CONFERENCE - 14 JUNE 2018

THURSDAY MORNING

THURSDAY AFTERNOON

08:00 - 08:30

Welcome & Registration

08:30 - 08:45

Opening Remarks

12:30 - 13:30

Lunch & Networking

KEYNOTE

08:45 - 09:30

TrioBinning: Trio-based assembly and phasing

SERGEY KOREN

- NHGRI, USA

SESSION 2

13:30 - 14:40

STRUCTURAL VARIANT ANALYSIS

moderator: Fritz Sedlazeck

LECTURE

09:30 - 10:00

SMRT Link and Analysis Tools for PacBio data

JIM DRAKE

- PacBio, USA

10:00 - 10:30

Coffee Break

Size matters: accurate detection and impact of SVs

FRITZ SEDLAZECK - Baylor College of Medicine, USA

SVIM: structural variant identification method using long reads

DAVID HELLER - MPI for Molecular Genetics, Germany

Open Discussion

SESSION 1

10:30 - 12:20

DE NOVO ASSEMBLY

moderator: Sarah Kingan

SESSION 3

14:40 - 15:50

TARGETED SEQUENCING APPLICATIONS

moderator: Adam Ameur

Evaluating haplotype phasing from FALCON Unzip

BRETT HANNIGAN - DNAnexus, USA

FALCON-phase: Integrating PacBio and HiC data for fully phased diploid genomes

SARAH KINGAN - PacBio, USA

Open Discussion

Introducing targeted long read sequencing in the clinic

ADAM AMEUR - Uppsala University, Sweden

Many-to-One-to-Many: Pooling and Demultiplexing

ARMIN TOEPFER - PacBio, Germany

Open Discussion

SPONSOR

12:20 - 12:30

TBA

bionano Genomics

15:50 - 16:20

Coffee Break

SESSION 4

16:20 - 17:20

ISO-SEQ ANALYSIS

moderator: Liz Tseng

Iso-Seq related bioinformatics tool and best practices

LIZ TSENG - PacBio, USA

Chicken or the egg: Iso-Seq library preparation to analysis

RICHARD KUO - University of Edinburgh, UK

Open Discussion

17:20 - 17:50

Discussion and Closing Remarks

TOP

SMRTLEIDEN JUNE 12 - 14

Leiden University Medical Center

Buruma Hall, Hippocratespad 21(Building 3), 2333 ZD Leiden, Netherlands