program
draft program - shown in Eastern European Daylight Time: UTC + 3
subject to changes & rearranging!
a note about workshops
Workshops will be held concurrently throughout the program.
In most concurrent sets there will be two workshops for in-person attendees and one workshop for virtual attendees.
virtual attendees
- Virtual attendees do not need to select a workshop.
- All workshop topics will be delivered.
- Please note although these try to be interactive they will not be as interactive as the in-person workshops.
in-person attendees
- The program allows each attendee to attend all workshops. In-person attendees will be asked to select a workshop in each concurrent set during registration.
- "Basic" or "Advanced" options for "ACMG grading", "UCSC genome browser" and "Ensembl genome browser" workshops will be available. Attendees with good working knowledge are encouraged to select the "Advanced" options, all other attendees should choose the "Basic" option.
- Please ensure you view the PDF program BEFORE you register so you are ready to select which workshops you wish to attend during registration.
program is draft - we may make some small changes and possibly add more workshops
ON-DEMAND: - Long Read Sequencing Approaches: Alex Hoischen (To be confirmed) - Human Phenotype Ontology (HPO) - describing phenotypes: Periklis Makrythanassis - WES analysis: TBA
Registration
In-Person attendees arrive, register and collect name badge.
Welcome & Introduction
Dr. Andreas Laner
Chair
Variants in the Genome: position and possible consequences
Jan is a Professor of Genetics, and Director of the Laboratory of Medical Genetics, Athens... More
Joanne Traeger-Synodinos
Jan is a Professor of Genetics, and Director of the Laboratory of Medical Genetics, Athens University, and has over 30 years of experience in molecular genetics. Originally from the UK, where she graduated with a BSc in Physiology and Biochemistry from Reading University and a Doctorate (DPhil) at Oxford University, (under Sir Professor David Weatherall), she moved to Greece in 1982 and since 1983 has worked in the university clinics (pediatrics and genetics) of the St. Sophia’s Children’s Hospital in Athens. In 2005 she became a member of Athens University Medical School, in the Laboratory of Medical Genetics. Jan has wide experience with molecular diagnostics for many monogenic diseases. She is an internationally recognized expert in the hemoglobinopathies and also preimplantation genetic diagnosis (PGD), and has contributed to publications on Best Practice Guidelines for both topics. Her main research activities focus on investigating the molecular genetics of monogenic diseases and also the development of methods for molecular diagnostics. She has also participated in an EU-funded project which focused on Introducing diagnostic applications of next-generation sequencing in human genetics. She has over 150 peer-reviewed publications in international journals and chapters in several books.
Jan is a long-term member of the European Society of Human Genetics (ESHG) and the European Society of Human Reproduction and Embryology (ESHRE), serving on the Steering Committee of the ESHRE PGD Consortium between 2004-2016, and as Chair between 2012-2014. She is also a member of the Special Advisory Group for External Quality Assessment for PGT through GenQA and The Haemoglobinopathy Expert Panel, recognised by the Clinical Genome Research (ClinGen).
NGS: what method to apply (gene panel, WES or WGS) and where technology fails
Institute of Medical Genetics Ljublijana, Slovenia
Coffee Break
Gene variant databases & sharing information
Johan den Dunnen studied biology at the Catholic University Nijmegen (Nederland). In the same... More
Johan T. den Dunnen
Johan den Dunnen studied biology at the Catholic University Nijmegen (Nederland). In the same university he received his PhD in Molecular Biology for his work on the "Evolution of eye-lens crystallin genes". After his PhD he moved to the department of Human Genetics (Leiden University) and became involved in the search for the gene causing Duchenne/Becker muscular dystrophy. He is currently employed at the Center for Human and Clinical Genetics (Leiden University Medical Center, Leiden, Nederland), studying genetic disease in general and neuromuscular disorders (DMD/BMD, LGMD) in particular. As professor in "Medical Genomics" he focuses on the use of new high-throughput technology in research and diagnosis of genetic disease, in particular the development of methods to detect DNA variants and the application of next generation sequencing. To spread the laboratories knowledge on hereditary muscle disease he initiated the "Leiden Muscular Dystrophy pages" (http://www.DMD.nl). As part of these efforts he currently curates over 50 gene sequence variant databases. His group developed the freely available LSDB-in-a-Box software package LOVD, the Mutalyzer tool (HGVS sequence variant description) and he participates in the EU FP7 Gen2Phen project (WP leader for gene variant databases [LSDBs]).
EMQN - genomics quality assurance
virtual presentation
Bio TBA
Lunch Break
HGVS Nomenclature - describing variants
Johan den Dunnen studied biology at the Catholic University Nijmegen (Nederland). In the same... More
Johan T. den Dunnen
Johan den Dunnen studied biology at the Catholic University Nijmegen (Nederland). In the same university he received his PhD in Molecular Biology for his work on the "Evolution of eye-lens crystallin genes". After his PhD he moved to the department of Human Genetics (Leiden University) and became involved in the search for the gene causing Duchenne/Becker muscular dystrophy. He is currently employed at the Center for Human and Clinical Genetics (Leiden University Medical Center, Leiden, Nederland), studying genetic disease in general and neuromuscular disorders (DMD/BMD, LGMD) in particular. As professor in "Medical Genomics" he focuses on the use of new high-throughput technology in research and diagnosis of genetic disease, in particular the development of methods to detect DNA variants and the application of next generation sequencing. To spread the laboratories knowledge on hereditary muscle disease he initiated the "Leiden Muscular Dystrophy pages" (http://www.DMD.nl). As part of these efforts he currently curates over 50 gene sequence variant databases. His group developed the freely available LSDB-in-a-Box software package LOVD, the Mutalyzer tool (HGVS sequence variant description) and he participates in the EU FP7 Gen2Phen project (WP leader for gene variant databases [LSDBs]).
The Ensembl Browser and its possibilities
Ensembl Outreach Officer TBA.
The UCSC Browser and its possibilities
Robert is Associate Director of the UCSC Genome Browser, UC Santa Cruz Genomics Institute,... More
Robert Kuhn
Robert is Associate Director of the UCSC Genome Browser, UC Santa Cruz Genomics Institute, Santa Cruz, CA, USA
Robert Kuhn studied biology and biochemistry at the University of Wisconsin and University of Cincinnati. Following a masters degree in chemistry at the Oregon Health and Sciences University, he received his PhD in biochemistry and molecular biology at the University of California Santa Barbara, where he studied the centromeres of yeast. He then studied photoreceptor genes in plants at UC Berkeley and has taught biochemistry, genetics and molecular biology at UC Santa Cruz. Since joining the UCSC Genome Browser team in 2003, he has been instrumental in guiding the growth of the Browser and has shared the Browser in more than 300 presentations to scientists around the world.
Coffee Break
Variant Classification - ACMG Recommendations
Andreas Laner, PhD Head of Genomics Program Areas of Specialization Genetics of hereditary... More
Andreas Laner
Andreas Laner, PhD
Head of Genomics Program
Areas of Specialization
- Genetics of hereditary cancer syndromes
- Next-generation sequencing applications
- Interpretation and classification of sequence variants
Education & Experience
- Diploma in Biology, Ludwig Maximilian University, Munich
- PhD, Ludwig Maximilian University, Munich
Professional affiliations
- MGZ Munich, Head of Genomics Applications
- Member, European Society of Human Genetics
- Curator, Leiden Open Variation Database
- Organizational Committee, Variant Effect Prediction Training Course, Crete 2016
- Scientific Program Committee, 14th International Symposium on Variants in the Genome, Santiago de Compostela 2017
Refresh Break
WORKSHOP: HGVS Nomenclature - describing variants
CONCURRENT WORKSHOPS 1
Johan den Dunnen studied biology at the Catholic University Nijmegen (Nederland). In the same... More
Johan T. den Dunnen
Johan den Dunnen studied biology at the Catholic University Nijmegen (Nederland). In the same university he received his PhD in Molecular Biology for his work on the "Evolution of eye-lens crystallin genes". After his PhD he moved to the department of Human Genetics (Leiden University) and became involved in the search for the gene causing Duchenne/Becker muscular dystrophy. He is currently employed at the Center for Human and Clinical Genetics (Leiden University Medical Center, Leiden, Nederland), studying genetic disease in general and neuromuscular disorders (DMD/BMD, LGMD) in particular. As professor in "Medical Genomics" he focuses on the use of new high-throughput technology in research and diagnosis of genetic disease, in particular the development of methods to detect DNA variants and the application of next generation sequencing. To spread the laboratories knowledge on hereditary muscle disease he initiated the "Leiden Muscular Dystrophy pages" (http://www.DMD.nl). As part of these efforts he currently curates over 50 gene sequence variant databases. His group developed the freely available LSDB-in-a-Box software package LOVD, the Mutalyzer tool (HGVS sequence variant description) and he participates in the EU FP7 Gen2Phen project (WP leader for gene variant databases [LSDBs]).
WORKSHOP: ACMG grading - BASIC
CONCURRENT WORKSHOPS 1
For in-person attendees with little or no knowledge of ACMG grading.
Andreas Laner, PhD Head of Genomics Program Areas of Specialization Genetics of hereditary... More
Andreas Laner
Andreas Laner, PhD
Head of Genomics Program
Areas of Specialization
- Genetics of hereditary cancer syndromes
- Next-generation sequencing applications
- Interpretation and classification of sequence variants
Education & Experience
- Diploma in Biology, Ludwig Maximilian University, Munich
- PhD, Ludwig Maximilian University, Munich
Professional affiliations
- MGZ Munich, Head of Genomics Applications
- Member, European Society of Human Genetics
- Curator, Leiden Open Variation Database
- Organizational Committee, Variant Effect Prediction Training Course, Crete 2016
- Scientific Program Committee, 14th International Symposium on Variants in the Genome, Santiago de Compostela 2017
WORKSHOP: UCSC Genome Browser - VIRTUAL
CONCURRENT WORKSHOPS 1
Robert is Associate Director of the UCSC Genome Browser, UC Santa Cruz Genomics Institute,... More
Robert Kuhn
Robert is Associate Director of the UCSC Genome Browser, UC Santa Cruz Genomics Institute, Santa Cruz, CA, USA
Robert Kuhn studied biology and biochemistry at the University of Wisconsin and University of Cincinnati. Following a masters degree in chemistry at the Oregon Health and Sciences University, he received his PhD in biochemistry and molecular biology at the University of California Santa Barbara, where he studied the centromeres of yeast. He then studied photoreceptor genes in plants at UC Berkeley and has taught biochemistry, genetics and molecular biology at UC Santa Cruz. Since joining the UCSC Genome Browser team in 2003, he has been instrumental in guiding the growth of the Browser and has shared the Browser in more than 300 presentations to scientists around the world.
Integration of phenotypic and genomic data to diagnose patients with rare diseases (+ HPO intro)
Potential consequences on the RNA Level (theory)
Andreas Laner, PhD Head of Genomics Program Areas of Specialization Genetics of hereditary... More
Andreas Laner
Andreas Laner, PhD
Head of Genomics Program
Areas of Specialization
- Genetics of hereditary cancer syndromes
- Next-generation sequencing applications
- Interpretation and classification of sequence variants
Education & Experience
- Diploma in Biology, Ludwig Maximilian University, Munich
- PhD, Ludwig Maximilian University, Munich
Professional affiliations
- MGZ Munich, Head of Genomics Applications
- Member, European Society of Human Genetics
- Curator, Leiden Open Variation Database
- Organizational Committee, Variant Effect Prediction Training Course, Crete 2016
- Scientific Program Committee, 14th International Symposium on Variants in the Genome, Santiago de Compostela 2017
Variants in the mitochondrial genome
Coffee Break
WORKSHOP: HGVS Nomenclature - describing variants
CONCURRENT WORKSHOPS 2
Johan den Dunnen studied biology at the Catholic University Nijmegen (Nederland). In the same... More
Johan T. den Dunnen
Johan den Dunnen studied biology at the Catholic University Nijmegen (Nederland). In the same university he received his PhD in Molecular Biology for his work on the "Evolution of eye-lens crystallin genes". After his PhD he moved to the department of Human Genetics (Leiden University) and became involved in the search for the gene causing Duchenne/Becker muscular dystrophy. He is currently employed at the Center for Human and Clinical Genetics (Leiden University Medical Center, Leiden, Nederland), studying genetic disease in general and neuromuscular disorders (DMD/BMD, LGMD) in particular. As professor in "Medical Genomics" he focuses on the use of new high-throughput technology in research and diagnosis of genetic disease, in particular the development of methods to detect DNA variants and the application of next generation sequencing. To spread the laboratories knowledge on hereditary muscle disease he initiated the "Leiden Muscular Dystrophy pages" (http://www.DMD.nl). As part of these efforts he currently curates over 50 gene sequence variant databases. His group developed the freely available LSDB-in-a-Box software package LOVD, the Mutalyzer tool (HGVS sequence variant description) and he participates in the EU FP7 Gen2Phen project (WP leader for gene variant databases [LSDBs]).
WORKSHOP: ACMG grading - ADVANCED
CONCURRENT WORKSHOPS 2
Advanced workshop for those who are very knowledgable on ACMG grading. If you are not, please choose the other "Basic" workshop on Tues. 20 Sept. and select HGVS nomenclature workshop instead in this set of concurrent workshops.
Andreas Laner, PhD Head of Genomics Program Areas of Specialization Genetics of hereditary... More
Andreas Laner
Andreas Laner, PhD
Head of Genomics Program
Areas of Specialization
- Genetics of hereditary cancer syndromes
- Next-generation sequencing applications
- Interpretation and classification of sequence variants
Education & Experience
- Diploma in Biology, Ludwig Maximilian University, Munich
- PhD, Ludwig Maximilian University, Munich
Professional affiliations
- MGZ Munich, Head of Genomics Applications
- Member, European Society of Human Genetics
- Curator, Leiden Open Variation Database
- Organizational Committee, Variant Effect Prediction Training Course, Crete 2016
- Scientific Program Committee, 14th International Symposium on Variants in the Genome, Santiago de Compostela 2017
WORKSHOP: Ensembl Genome Browser - VIRTUAL
CONCURRENT WORKSHOPS 2
Ensembl Outreach Officer TBA.
Lunch Break
Workshop: NGS in diagnostics: where things can go wrong
CONCURRENT WORKSHOPS 3
Johan den Dunnen studied biology at the Catholic University Nijmegen (Nederland). In the same... More
Johan T. den Dunnen
Johan den Dunnen studied biology at the Catholic University Nijmegen (Nederland). In the same university he received his PhD in Molecular Biology for his work on the "Evolution of eye-lens crystallin genes". After his PhD he moved to the department of Human Genetics (Leiden University) and became involved in the search for the gene causing Duchenne/Becker muscular dystrophy. He is currently employed at the Center for Human and Clinical Genetics (Leiden University Medical Center, Leiden, Nederland), studying genetic disease in general and neuromuscular disorders (DMD/BMD, LGMD) in particular. As professor in "Medical Genomics" he focuses on the use of new high-throughput technology in research and diagnosis of genetic disease, in particular the development of methods to detect DNA variants and the application of next generation sequencing. To spread the laboratories knowledge on hereditary muscle disease he initiated the "Leiden Muscular Dystrophy pages" (http://www.DMD.nl). As part of these efforts he currently curates over 50 gene sequence variant databases. His group developed the freely available LSDB-in-a-Box software package LOVD, the Mutalyzer tool (HGVS sequence variant description) and he participates in the EU FP7 Gen2Phen project (WP leader for gene variant databases [LSDBs]).
Anna is head of the Development and Technology Transfer department at the Munich Medical... More
Anna Benet-Pages
Anna is head of the Development and Technology Transfer department at the Munich Medical Genetics Centre since 2011. Anna moved from Barcelona to Munich in the year 2000 where she obtained her PhD in molecular biology by the Ludwig Maximilian University of Munich in the year 2005. As a post-doc she worked at the Helmholtz German Research Centre for Environmental Health in the Human Genetics Institute of Prof. Dr. Thomas Meitinger, where she managed the laboratory unit of the next-generation sequencing core facility. Her primary research area was genetic identification and molecular characterization of rare Mendelian diseases. As specialist in high-throughput sequencing and data analysis, she focuses her professional career at MGZ on the interdisciplinary management of laboratory technology, bioinformatics, and scientific development. In particular the application of next generation sequencing and the development of bioinformatics methods to detect genomic variations for the diagnosis of genetic disease. She aims to achieve Best Practices for high-throughput sequencing data analysis depending on the type of variation of interest and the technology employed. Anna has contributed to publications on guidelines for utilization of next-generation sequencing approaches in genetic testing and she is also assessor of the External Quality Assessment scheme for Charcot-Marie-Tooth disease within the European Genetics Quality Network (EMQN) framework.
WORKSHOP: UCSC Genome Browser - BASIC
CONCURRENT WORKSHOPS 3
BASIC workshop for UCSC Genome Browser for attendees with little or no working knowledge
Robert is Associate Director of the UCSC Genome Browser, UC Santa Cruz Genomics Institute,... More
Robert Kuhn
Robert is Associate Director of the UCSC Genome Browser, UC Santa Cruz Genomics Institute, Santa Cruz, CA, USA
Robert Kuhn studied biology and biochemistry at the University of Wisconsin and University of Cincinnati. Following a masters degree in chemistry at the Oregon Health and Sciences University, he received his PhD in biochemistry and molecular biology at the University of California Santa Barbara, where he studied the centromeres of yeast. He then studied photoreceptor genes in plants at UC Berkeley and has taught biochemistry, genetics and molecular biology at UC Santa Cruz. Since joining the UCSC Genome Browser team in 2003, he has been instrumental in guiding the growth of the Browser and has shared the Browser in more than 300 presentations to scientists around the world.
WORKSHOP: Integration of phenotypic and genomic data to diagnose patients with rare diseases (+ HPO intro) - VIRTUAL
CONCURRENT WORKSHOPS 3
Coffee Break
WORKSHOP: Variant Annotation Integrator & Variant Effect Predictor
CONCURRENT WORKSHOPS 4
Anna is head of the Development and Technology Transfer department at the Munich Medical... More
Anna Benet-Pages
Anna is head of the Development and Technology Transfer department at the Munich Medical Genetics Centre since 2011. Anna moved from Barcelona to Munich in the year 2000 where she obtained her PhD in molecular biology by the Ludwig Maximilian University of Munich in the year 2005. As a post-doc she worked at the Helmholtz German Research Centre for Environmental Health in the Human Genetics Institute of Prof. Dr. Thomas Meitinger, where she managed the laboratory unit of the next-generation sequencing core facility. Her primary research area was genetic identification and molecular characterization of rare Mendelian diseases. As specialist in high-throughput sequencing and data analysis, she focuses her professional career at MGZ on the interdisciplinary management of laboratory technology, bioinformatics, and scientific development. In particular the application of next generation sequencing and the development of bioinformatics methods to detect genomic variations for the diagnosis of genetic disease. She aims to achieve Best Practices for high-throughput sequencing data analysis depending on the type of variation of interest and the technology employed. Anna has contributed to publications on guidelines for utilization of next-generation sequencing approaches in genetic testing and she is also assessor of the External Quality Assessment scheme for Charcot-Marie-Tooth disease within the European Genetics Quality Network (EMQN) framework.
Robert is Associate Director of the UCSC Genome Browser, UC Santa Cruz Genomics Institute,... More
Robert Kuhn
Robert is Associate Director of the UCSC Genome Browser, UC Santa Cruz Genomics Institute, Santa Cruz, CA, USA
Robert Kuhn studied biology and biochemistry at the University of Wisconsin and University of Cincinnati. Following a masters degree in chemistry at the Oregon Health and Sciences University, he received his PhD in biochemistry and molecular biology at the University of California Santa Barbara, where he studied the centromeres of yeast. He then studied photoreceptor genes in plants at UC Berkeley and has taught biochemistry, genetics and molecular biology at UC Santa Cruz. Since joining the UCSC Genome Browser team in 2003, he has been instrumental in guiding the growth of the Browser and has shared the Browser in more than 300 presentations to scientists around the world.
Ensembl Outreach Officer TBA.
WORKSHOP: varvis genomics platform
CONCURRENT WORKSHOPS 4 - Sponsored Workshop
The varvis® genomics platform is a complete solution for clinical diagnostics, supporting NGS raw data processing, genomics data management, and variant interpretation. Automated CNV and SNV analysis are clinically validated and completely integrated into the NGS workflow.
WORKSHOP: HGVS Nomenclature - describing variants - VIRTUAL
CONCURRENT WORKSHOPS 4
Johan den Dunnen studied biology at the Catholic University Nijmegen (Nederland). In the same... More
Johan T. den Dunnen
Johan den Dunnen studied biology at the Catholic University Nijmegen (Nederland). In the same university he received his PhD in Molecular Biology for his work on the "Evolution of eye-lens crystallin genes". After his PhD he moved to the department of Human Genetics (Leiden University) and became involved in the search for the gene causing Duchenne/Becker muscular dystrophy. He is currently employed at the Center for Human and Clinical Genetics (Leiden University Medical Center, Leiden, Nederland), studying genetic disease in general and neuromuscular disorders (DMD/BMD, LGMD) in particular. As professor in "Medical Genomics" he focuses on the use of new high-throughput technology in research and diagnosis of genetic disease, in particular the development of methods to detect DNA variants and the application of next generation sequencing. To spread the laboratories knowledge on hereditary muscle disease he initiated the "Leiden Muscular Dystrophy pages" (http://www.DMD.nl). As part of these efforts he currently curates over 50 gene sequence variant databases. His group developed the freely available LSDB-in-a-Box software package LOVD, the Mutalyzer tool (HGVS sequence variant description) and he participates in the EU FP7 Gen2Phen project (WP leader for gene variant databases [LSDBs]).
Refresh Break
WORKSHOP: Ensembl Genome Browser - BASIC
CONCURRENT WORKSHOPS 5
For in-person attendees with little or basic knowledge. Please choose the other option if you have good knowledge and select the advanced Ensembl workshop on Fri. 23rd Sept. instead.
Ensembl Outreach Officer TBA.
WORKSHOP: Integration of phenotypic and genomic data to diagnose patients with rare diseases (+ HPO intro)
CONCURRENT WORKSHOPS 5
Workshop: NGS in diagnostics: where things can go wrong - VIRTUAL
CONCURRENT WORKSHOPS 5
Johan den Dunnen studied biology at the Catholic University Nijmegen (Nederland). In the same... More
Johan T. den Dunnen
Johan den Dunnen studied biology at the Catholic University Nijmegen (Nederland). In the same university he received his PhD in Molecular Biology for his work on the "Evolution of eye-lens crystallin genes". After his PhD he moved to the department of Human Genetics (Leiden University) and became involved in the search for the gene causing Duchenne/Becker muscular dystrophy. He is currently employed at the Center for Human and Clinical Genetics (Leiden University Medical Center, Leiden, Nederland), studying genetic disease in general and neuromuscular disorders (DMD/BMD, LGMD) in particular. As professor in "Medical Genomics" he focuses on the use of new high-throughput technology in research and diagnosis of genetic disease, in particular the development of methods to detect DNA variants and the application of next generation sequencing. To spread the laboratories knowledge on hereditary muscle disease he initiated the "Leiden Muscular Dystrophy pages" (http://www.DMD.nl). As part of these efforts he currently curates over 50 gene sequence variant databases. His group developed the freely available LSDB-in-a-Box software package LOVD, the Mutalyzer tool (HGVS sequence variant description) and he participates in the EU FP7 Gen2Phen project (WP leader for gene variant databases [LSDBs]).
Anna is head of the Development and Technology Transfer department at the Munich Medical... More
Anna Benet-Pages
Anna is head of the Development and Technology Transfer department at the Munich Medical Genetics Centre since 2011. Anna moved from Barcelona to Munich in the year 2000 where she obtained her PhD in molecular biology by the Ludwig Maximilian University of Munich in the year 2005. As a post-doc she worked at the Helmholtz German Research Centre for Environmental Health in the Human Genetics Institute of Prof. Dr. Thomas Meitinger, where she managed the laboratory unit of the next-generation sequencing core facility. Her primary research area was genetic identification and molecular characterization of rare Mendelian diseases. As specialist in high-throughput sequencing and data analysis, she focuses her professional career at MGZ on the interdisciplinary management of laboratory technology, bioinformatics, and scientific development. In particular the application of next generation sequencing and the development of bioinformatics methods to detect genomic variations for the diagnosis of genetic disease. She aims to achieve Best Practices for high-throughput sequencing data analysis depending on the type of variation of interest and the technology employed. Anna has contributed to publications on guidelines for utilization of next-generation sequencing approaches in genetic testing and she is also assessor of the External Quality Assessment scheme for Charcot-Marie-Tooth disease within the European Genetics Quality Network (EMQN) framework.
Conference Dinner
Location to be announced
RNA analysis: expanding the Dx yield (practice)
Functional Testing (Protein plus RNA) / (Potential consequences on the Protein Level)
Epigenetics - beyond Mendel
Coffee Break
WORKSHOP: varvis genomics platform
CONCURRENT WORKSHOPS 6 - Sponsored Workshop
The varvis® genomics platform is a complete solution for clinical diagnostics, supporting NGS raw data processing, genomics data management, and variant interpretation. Automated CNV and SNV analysis are clinically validated and completely integrated into the NGS workflow.
WORKSHOP: Variant Annotation Integrator & Variant Effect Predictor
CONCURRENT WORKSHOPS 6
Anna is head of the Development and Technology Transfer department at the Munich Medical... More
Anna Benet-Pages
Anna is head of the Development and Technology Transfer department at the Munich Medical Genetics Centre since 2011. Anna moved from Barcelona to Munich in the year 2000 where she obtained her PhD in molecular biology by the Ludwig Maximilian University of Munich in the year 2005. As a post-doc she worked at the Helmholtz German Research Centre for Environmental Health in the Human Genetics Institute of Prof. Dr. Thomas Meitinger, where she managed the laboratory unit of the next-generation sequencing core facility. Her primary research area was genetic identification and molecular characterization of rare Mendelian diseases. As specialist in high-throughput sequencing and data analysis, she focuses her professional career at MGZ on the interdisciplinary management of laboratory technology, bioinformatics, and scientific development. In particular the application of next generation sequencing and the development of bioinformatics methods to detect genomic variations for the diagnosis of genetic disease. She aims to achieve Best Practices for high-throughput sequencing data analysis depending on the type of variation of interest and the technology employed. Anna has contributed to publications on guidelines for utilization of next-generation sequencing approaches in genetic testing and she is also assessor of the External Quality Assessment scheme for Charcot-Marie-Tooth disease within the European Genetics Quality Network (EMQN) framework.
Robert is Associate Director of the UCSC Genome Browser, UC Santa Cruz Genomics Institute,... More
Robert Kuhn
Robert is Associate Director of the UCSC Genome Browser, UC Santa Cruz Genomics Institute, Santa Cruz, CA, USA
Robert Kuhn studied biology and biochemistry at the University of Wisconsin and University of Cincinnati. Following a masters degree in chemistry at the Oregon Health and Sciences University, he received his PhD in biochemistry and molecular biology at the University of California Santa Barbara, where he studied the centromeres of yeast. He then studied photoreceptor genes in plants at UC Berkeley and has taught biochemistry, genetics and molecular biology at UC Santa Cruz. Since joining the UCSC Genome Browser team in 2003, he has been instrumental in guiding the growth of the Browser and has shared the Browser in more than 300 presentations to scientists around the world.
Ensembl Outreach Officer TBA.
Lunch Break
WORKSHOP: Ensembl Genome Browser - ADVANCED
CONCURRENT WORKSHOPS 7
In-person attendees who have a good working knowledge of Ensembl should attend this workshop. If you have no or only basic knowledge, please choose the "Basic" option on Thurs. 22nd Sept.
Ensembl Outreach Officer TBA.
WORKSHOP: Integration of phenotypic and genomic data to diagnose patients with rare diseases (+ HPO intro)
CONCURRENT WORKSHOPS 7
WORKSHOP: Variant Annotation Integrator (track sets) - VIRTUAL
CONCURRENT WORKSHOPS 7
Anna is head of the Development and Technology Transfer department at the Munich Medical... More
Anna Benet-Pages
Anna is head of the Development and Technology Transfer department at the Munich Medical Genetics Centre since 2011. Anna moved from Barcelona to Munich in the year 2000 where she obtained her PhD in molecular biology by the Ludwig Maximilian University of Munich in the year 2005. As a post-doc she worked at the Helmholtz German Research Centre for Environmental Health in the Human Genetics Institute of Prof. Dr. Thomas Meitinger, where she managed the laboratory unit of the next-generation sequencing core facility. Her primary research area was genetic identification and molecular characterization of rare Mendelian diseases. As specialist in high-throughput sequencing and data analysis, she focuses her professional career at MGZ on the interdisciplinary management of laboratory technology, bioinformatics, and scientific development. In particular the application of next generation sequencing and the development of bioinformatics methods to detect genomic variations for the diagnosis of genetic disease. She aims to achieve Best Practices for high-throughput sequencing data analysis depending on the type of variation of interest and the technology employed. Anna has contributed to publications on guidelines for utilization of next-generation sequencing approaches in genetic testing and she is also assessor of the External Quality Assessment scheme for Charcot-Marie-Tooth disease within the European Genetics Quality Network (EMQN) framework.
Robert is Associate Director of the UCSC Genome Browser, UC Santa Cruz Genomics Institute,... More
Robert Kuhn
Robert is Associate Director of the UCSC Genome Browser, UC Santa Cruz Genomics Institute, Santa Cruz, CA, USA
Robert Kuhn studied biology and biochemistry at the University of Wisconsin and University of Cincinnati. Following a masters degree in chemistry at the Oregon Health and Sciences University, he received his PhD in biochemistry and molecular biology at the University of California Santa Barbara, where he studied the centromeres of yeast. He then studied photoreceptor genes in plants at UC Berkeley and has taught biochemistry, genetics and molecular biology at UC Santa Cruz. Since joining the UCSC Genome Browser team in 2003, he has been instrumental in guiding the growth of the Browser and has shared the Browser in more than 300 presentations to scientists around the world.
Coffee Break
Workshop: NGS in diagnostics: where things can go wrong
CONCURRENT WORKSHOPS 8
Johan den Dunnen studied biology at the Catholic University Nijmegen (Nederland). In the same... More
Johan T. den Dunnen
Johan den Dunnen studied biology at the Catholic University Nijmegen (Nederland). In the same university he received his PhD in Molecular Biology for his work on the "Evolution of eye-lens crystallin genes". After his PhD he moved to the department of Human Genetics (Leiden University) and became involved in the search for the gene causing Duchenne/Becker muscular dystrophy. He is currently employed at the Center for Human and Clinical Genetics (Leiden University Medical Center, Leiden, Nederland), studying genetic disease in general and neuromuscular disorders (DMD/BMD, LGMD) in particular. As professor in "Medical Genomics" he focuses on the use of new high-throughput technology in research and diagnosis of genetic disease, in particular the development of methods to detect DNA variants and the application of next generation sequencing. To spread the laboratories knowledge on hereditary muscle disease he initiated the "Leiden Muscular Dystrophy pages" (http://www.DMD.nl). As part of these efforts he currently curates over 50 gene sequence variant databases. His group developed the freely available LSDB-in-a-Box software package LOVD, the Mutalyzer tool (HGVS sequence variant description) and he participates in the EU FP7 Gen2Phen project (WP leader for gene variant databases [LSDBs]).
Anna is head of the Development and Technology Transfer department at the Munich Medical... More
Anna Benet-Pages
Anna is head of the Development and Technology Transfer department at the Munich Medical Genetics Centre since 2011. Anna moved from Barcelona to Munich in the year 2000 where she obtained her PhD in molecular biology by the Ludwig Maximilian University of Munich in the year 2005. As a post-doc she worked at the Helmholtz German Research Centre for Environmental Health in the Human Genetics Institute of Prof. Dr. Thomas Meitinger, where she managed the laboratory unit of the next-generation sequencing core facility. Her primary research area was genetic identification and molecular characterization of rare Mendelian diseases. As specialist in high-throughput sequencing and data analysis, she focuses her professional career at MGZ on the interdisciplinary management of laboratory technology, bioinformatics, and scientific development. In particular the application of next generation sequencing and the development of bioinformatics methods to detect genomic variations for the diagnosis of genetic disease. She aims to achieve Best Practices for high-throughput sequencing data analysis depending on the type of variation of interest and the technology employed. Anna has contributed to publications on guidelines for utilization of next-generation sequencing approaches in genetic testing and she is also assessor of the External Quality Assessment scheme for Charcot-Marie-Tooth disease within the European Genetics Quality Network (EMQN) framework.
WORKSHOP: ACMG grading - VIRTUAL
CONCURRENT WORKSHOPS 8
Andreas Laner, PhD Head of Genomics Program Areas of Specialization Genetics of hereditary... More
Andreas Laner
Andreas Laner, PhD
Head of Genomics Program
Areas of Specialization
- Genetics of hereditary cancer syndromes
- Next-generation sequencing applications
- Interpretation and classification of sequence variants
Education & Experience
- Diploma in Biology, Ludwig Maximilian University, Munich
- PhD, Ludwig Maximilian University, Munich
Professional affiliations
- MGZ Munich, Head of Genomics Applications
- Member, European Society of Human Genetics
- Curator, Leiden Open Variation Database
- Organizational Committee, Variant Effect Prediction Training Course, Crete 2016
- Scientific Program Committee, 14th International Symposium on Variants in the Genome, Santiago de Compostela 2017
WORKSHOP: UCSC Genome Browser - ADVANCED
CONCURRENT WORKSHOPS 8
Advanced workshop for those already knowledgable on the use of this browser. If you are unfamiliar with this browser or are not very confident please choose the other "Basic" option for this workshop on Thurs. 22nd Sept.
Robert is Associate Director of the UCSC Genome Browser, UC Santa Cruz Genomics Institute,... More
Robert Kuhn
Robert is Associate Director of the UCSC Genome Browser, UC Santa Cruz Genomics Institute, Santa Cruz, CA, USA
Robert Kuhn studied biology and biochemistry at the University of Wisconsin and University of Cincinnati. Following a masters degree in chemistry at the Oregon Health and Sciences University, he received his PhD in biochemistry and molecular biology at the University of California Santa Barbara, where he studied the centromeres of yeast. He then studied photoreceptor genes in plants at UC Berkeley and has taught biochemistry, genetics and molecular biology at UC Santa Cruz. Since joining the UCSC Genome Browser team in 2003, he has been instrumental in guiding the growth of the Browser and has shared the Browser in more than 300 presentations to scientists around the world.
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Future Developments
Johan den Dunnen studied biology at the Catholic University Nijmegen (Nederland). In the same... More
Johan T. den Dunnen
Johan den Dunnen studied biology at the Catholic University Nijmegen (Nederland). In the same university he received his PhD in Molecular Biology for his work on the "Evolution of eye-lens crystallin genes". After his PhD he moved to the department of Human Genetics (Leiden University) and became involved in the search for the gene causing Duchenne/Becker muscular dystrophy. He is currently employed at the Center for Human and Clinical Genetics (Leiden University Medical Center, Leiden, Nederland), studying genetic disease in general and neuromuscular disorders (DMD/BMD, LGMD) in particular. As professor in "Medical Genomics" he focuses on the use of new high-throughput technology in research and diagnosis of genetic disease, in particular the development of methods to detect DNA variants and the application of next generation sequencing. To spread the laboratories knowledge on hereditary muscle disease he initiated the "Leiden Muscular Dystrophy pages" (http://www.DMD.nl). As part of these efforts he currently curates over 50 gene sequence variant databases. His group developed the freely available LSDB-in-a-Box software package LOVD, the Mutalyzer tool (HGVS sequence variant description) and he participates in the EU FP7 Gen2Phen project (WP leader for gene variant databases [LSDBs]).
Andreas Laner, PhD Head of Genomics Program Areas of Specialization Genetics of hereditary... More
Andreas Laner
Andreas Laner, PhD
Head of Genomics Program
Areas of Specialization
- Genetics of hereditary cancer syndromes
- Next-generation sequencing applications
- Interpretation and classification of sequence variants
Education & Experience
- Diploma in Biology, Ludwig Maximilian University, Munich
- PhD, Ludwig Maximilian University, Munich
Professional affiliations
- MGZ Munich, Head of Genomics Applications
- Member, European Society of Human Genetics
- Curator, Leiden Open Variation Database
- Organizational Committee, Variant Effect Prediction Training Course, Crete 2016
- Scientific Program Committee, 14th International Symposium on Variants in the Genome, Santiago de Compostela 2017
