Variant Detection 2020: bringing you the very best in human genetics related to variant detection, sequencing, and interpretation
The 15th International Symposium on Variants in the Genome: detection, genome sequencing and interpretation is also known by the short name of Variant Detection 2020 (prevously known as the Mutation Detection meeting series). The meeting has a long history since 1991. The first meetings focussed on methodology developed to find mutations/variants in DNA. In the years that have passed since, we find cheaper and cheaper methods being used to do the same but more sensitively, effectively and efficiently. In addition, due to the enormous decrease in sequencing cost, methodology concentrated on one main method; sequencing. Consequently, attention and interest has shifted from detecting to evaluating variants; do they effect the health of the individual?
If you want to learn from and meet world class speakers who will present the very best in human genomics related to variant detection, sequencing, and interpretation then you cannot afford to miss this conference. You will learn about sequencing technologies, variant interpretation, large projects, clinical applications, software, databases & bioinfomatics, new frontiers and more.
This is known as a friendly meeting, you will meet and network with colleagues from around the world at the social opportunities provided throughout the symposium. You will have hands-on opportunities to learn or update your skills and you will find out the latest technologies from leading genomics companies.
We therefore invite you to submit your abstracts as soon as possible, and encourage you to travel to beautiful Piran, Slovenia to learn and participate at this dynamic meeting.
Prof. Johan T. den Dunnen
Chair
Who is the meeting for?
Expected Participants are people working in a DNA laboratory including clinical diagnostic labs involved in DNA sequencing data analysis.
Expected knowledge - basic knowledge of molecular biology (DNA, RNA, protein), molecular biology lab technologies (esp. sequencing) and (human) genetics.
The language will be ENGLISH. There will be no translation service.
Where will Variant Detection 2020 be held?
Variant Detection 2020 will be held at the Grand Hotel St. Bernadin, Resort and Conference Centre nearby the pictureque historic town of Piran on the Adriatic Coast of Slovenia. Find out more on the venue page here.
Scientific Program Committee
- Johan T. den Dunnen (LUMC, Leiden, Netherlands) Chair
- Ales Maver (Ljublijana, Slovenia) Local Org.
- Reece Hart (San Francisco, USA)
- Andreas Laner (MGZ, Munich, Germany)
Proposed Topics
- Single Cell Sequencing / Technologies
- Single molecule sequencing
- Long- read sequencing
- Long-read RNA sequencing
- Emerging or novel technolgies for variant detection
- Non-SNV type of variants
VARIANT INTERPRETATION IN PRACTICE
- Update on ClinGen Recommendations to the ACMG-AMP system
- High-throughput clinical systems
- ClinGen interpretation system
- Artificial intelligence in data systems related to genomics
- Ensembl
- In-house vs commercial interpretation software
- Block-chain (or other secure systems) technology for genomic/patient data storage
- Variants and electronic medical records
- Big data/databases/Cloud Genomics
- Impact of FDA recognition of selected variant databases
APPLICATIONS
- Rethinking population screening & Testing Guidelines
- Cancers:Colorectal & BRCA
- Editing (CRISPR/CASS)
- Epigenetics
- Metagenomics
LARGE PROJECTS
- 10,000 animals project
- Genomics England
- All of Us
OTHER...
- Frontiers of direct to consumer testing
- & more...
Meet some of our Speakers
den Dunnen, Johan T.
den Dunnen, Johan T.
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]).
Hart, Reece
Hart, Reece
Reece Hart is a Research and Engineering Fellow at Invitae, a clinical genome diagnostics company, where he is part of the team building reliable systems to analyze, interpret, and communicate sequence variation. He is an active member of the Global Alliance for Genomics and Health, an international, non-profit alliance that is building a common framework of technical and ethical standards to enable the responsible, voluntary, and secure sharing of genomic and clinical data. He was previously director of engineering at 23andMe, the Chief Scientist for UC Berkeley's Genome Commons, and a scientist in target discovery and manager of research computing at Genentech. He received his PhD in molecular biophysics and Masters in computer science from Washington University in St. Louis.
Laner, Andreas
Laner, Andreas
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
Maver, Ales
To Be Announced
View the Variant Detection 2020 Program Overview
Why you should attend?
Come to Variant Detection 2020 in Piran and you will:
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LEARN from distinguished speakers.
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GAIN valuable insights about sequencing technologies.
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HEAR from THE variant nomenclature expert Johan T. den Dunnen.
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DISCUSS variant interpretation.
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FIND OUT about Software & Bioinformatics tools.
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GROW as an individual in your profession
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MEET and CONNECT with distinguished human geneticists.
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Prepare to LEARN but also to EXCHANGE IDEAS
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DISCOVER the latest technologies and tools from leading technology companies.
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Combine a prime opportunity for professional education and development with the added benefits of:
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The beautiful and picturesque city or Piran and Portoroz on the most beautiful part of the Adriatic Coast.
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Traditional Slovenian hospitality.
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A dynamic meeting destination.
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A safe and easy going city.
Who should attend?
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Molecular geneticists
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Clinical geneticists
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Genetics researchers
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Molecular diagnostics labs
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Data analysts
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Medical specialists with interests in genomics
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anyone interpreting DNA variants on a regular basis
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