2nd Variant Effect Prediction Training Course. 6-8 Nov 2017 Prague Czech Republic. MM Prague Booklet A6]2017.indd 1 25/10/2017 9:38
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1 POCKET PROGRAM 2nd Variant Effect Prediction Training Course 6-8 Nov 2017 Prague Czech Republic MM Prague Booklet A6]2017.indd 1 25/10/2017 9:38
2 The Human Variome Project and the Scientific Organising Committee wishes to express its gratitude to the following sponsors for their generous support of this event. GOLD 2 SILVER BRONZE IN KIND [ ] U BL G ústav biologie a lékařské genetiky MM Prague Booklet A6]2017.indd 2 25/10/2017 9:38
3 2nd Variant Effect Prediction Training Course 6-8 November 2017 NH Prague City Hotel Prague Czech Republic 3 Scientific Programme Committee Prof. Johan T. den Dunnen (Leiden, Nederland) CHAIR Prof. Milan Macek Jr. (Prague, Czech Rep.) LOCAL ORGANISER Dr Stanislav Kmoch (Prague, Czech Rep.) Dr Sebastian Kohler (Berlin, Germany) Dr Andreas Laner (Munich, Germany) Dr Joanne Traeger-Synodinos (Athens, Greece) MM Prague Booklet A6]2017.indd 3 25/10/2017 9:38
4 Monday 6th November REGISTRATION Zürich Foyer PLENARY SESSION Welcome & Introduction Johan T. den Dunnen Leiden Univ. Medical Center, Leiden, Netherlands Variants in the genome, position and possible consequences Jan Traeger-Synodinos Dept. of Medical Genetics, National and Kapodistrian University of Athens, Greece Calling DNA variants - SNV, CNV & SV Steven Laurie RD Connect, CNAG-CRG, Barcelona, Spain Coffee Break & Poster Session PLENARY SESSION Human Phenotype Ontology (HPO) Sebastian Köhler NeuroCure Cluster of Excellence, Charité Universitätsklinikum Berlin, Germany Gene variant databases & sharing information Martina Witsch Baumgartner Dept. für Medizinische Genetik, Molekulare und Klinische Pharmakologie Medizinische Universität Innsbruck, Austria MM Prague Booklet A6]2017.indd 4 25/10/2017 9:38
5 Monday 6th November Lunch PLENARY SESSION The HGVS recommendations to describe sequence variants Johan T. den Dunnen Leiden Univ. Medical Center, Leiden, Netherlands Variant Classification: ACMG recommendations Andreas Laner MGZ - Medical Genetics Centre, Munich, Germany Viewing the Data: the Ensembl browser and its possibilities Benjamin Moore Ensembl, EMBL - EBI, Cambridge, UK Coffee Break Room: Zürich 3 Room: Zürich 4 Ensembl Genome Browser Variant interpretation using ACMG guidelines Sponsored Practical: Sophia Genetics Benjamin Moore Andreas Laner Gaetano Bonifacio & Jean-François Vanbellinghen Refresh Break MM Prague Booklet A6]2017.indd 5 25/10/2017 9:38
6 Monday 6th November Ensembl Genome Browser Room: Zürich 3 Sponsored Practical: Qiagen Room: Zürich 4 *HGVS, HPO and submitting Data Workshop Benjamin Moore Ruth Burton & Kamil Matulka Johan T. den Dunnen WELCOME RECEPTION - NH PRAGUE CITY *(once only, this is not repeated) MM Prague Booklet A6]2017.indd 6 25/10/2017 9:38
7 Tuesday 7th November PLENARY SESSION Viewing the Data: the UCSC browser and its possibilities Robert Kuhn UCSC Genome Browser, UC Santa Cruz Genomics Institute, Santa Cruz, CA, USA Variant Annotation: VEP Benjamin Moore Ensembl, EMBL - EBI, Cambridge, UK The RD-Connect platform Steve Laurie RD Connect, CNAG-CRG, Barcelona, Spain Coffee Break PLENARY SESSION Potential Consequences on the RNA Level Andreas Laner MGZ - Medical Genetics Centre, Munich, Germany Potential Consequences on Protein Level & tools that bridge the evaluation of the consequences of variants between DNA and protein Jana Marie Schwarz / Sebastian Köhler NeuroCure Cluster of Excellence, Charité Universitätsklinikum Berlin, Germany CNV detection from targeted next-generation panel sequencing data in routine diagnostics Anna Benet Pages MGZ - Medical Genetics Centre, Munich, Germany MM Prague Booklet A6]2017.indd 7 25/10/2017 9:38
8 Tuesday 7th November Lunch Break Room: Zürich 3 Room: Zürich 4 Sponsored Practical: Sophia Genetics Using the RD-Connect Genomics platform to solve rare disease cases UCSC Genome Browser 8 Gaetano Bonifacio & Jean-François Vanbellinghen Steven Laurie Robert Kuhn Coffee Break Room: Zürich 3 Room: Zürich 4 Variant interpretation using ACMG guidelines Using the RD-Connect Genomics platform to solve rare disease cases * Sponsored Practical: Clinical diagnostics with automated SNP and CNV analysis using VARVIS Andreas Laner *(once only, this is not repeated) Steven Laurie Konrad Platzer & Yvonne Schmitz MM Prague Booklet A6]2017.indd 8 25/10/2017 9:38
9 Wednesday 8th November PLENARY SESSION Variants prioritization: annotation and filtration steps Christophe Béroud RD Connect, Aix-Marseille Univ., Marseille, France Complex penetrance analysis on a model of CFTR locus specific efforts Milan Macek Jr. Charles University, Prague, Czech Republic Assemble for group photograph Coffee Break PLENARY SESSION Functional Testing: from lab tests to animal models Johan T. den Dunnen Leiden Univ. Medical Center, Leiden, Netherlands Room: Zürich 3 Room: Zürich 4 Sponsored Practical: Qiagen MutationTaster & Regulation Spotter VarAFT & UMD Predictor (RD connect) Ruth Burton & Kamil Matulka Jana Marie Schwarz & Daniela Hombach Christophe Béroud MM Prague Booklet A6]2017.indd 9 25/10/2017 9:38
10 Wednesday 8th November Lunch Break Room: Zürich 3 Room: Zürich 4 UCSC Genome Browser MutationTaster & Regulation Spotter VarAFT & UMD Predictor (RD connect) 10 Robert Kuhn Jana Marie Schwarz & Daniela Hombach Christophe Béroud Coffee Break PLENARY SESSION NGS in Diagnostics: a practical example in hereditary cardiomyopathies Patricia Norambuena University Hospital Motol, Prague, Czech Republic Future Developments, Meeting Evaluation and Close Anna Benet Pages & Andreas Laner MGZ - Medical Genetics Centre, Munich, Germany COURSE END MM Prague Booklet A6]2017.indd 10 25/10/2017 9:38
11 SCHEDULE OF DEMONSTRATIONS PRESENTATION MONDAY MONDAY TUESDAY TUESDAY WEDNESDAY WEDNESDAY Ensemble Genome Browser UCSC Genome Browser ACMG Classification MutationTaster & Regulation Spotter 11 VarAFT & UMD Predictor RD Connect Platform HGVS, HPO & submitting Data Qiagen Sophia Genetics Limbus Med. Tech. MM Prague Booklet A6]2017.indd 11 25/10/2017 9:38
12 MM Prague Booklet A6]2017.indd 12 25/10/2017 9:38
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