Skip to content

Closing date 31st Jan. 2020

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


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


  • 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


  • Rethinking population screening & Testing Guidelines
  • Cancers:Colorectal & BRCA
  • Editing (CRISPR/Cas9)
  • Epigenetics
  • Metagenomics


  • 10,000 animals project
  • Genomics England
  • All of Us


  • Frontiers of direct to consumer testing
  • & more...

Meet some of our Speakers

Acuña Hidalgo, Rocío

Co-Founder & CTO, Nostos Genomics
Rocío is a medical doctor with a PhD in human genetics and a decade of experience... More

den Dunnen, Johan T.

Head, Leiden Genome Technology Center, Human & Clinical Genetics, Leiden University Medical Center
Johan den Dunnen studied biology at the Catholic University Nijmegen (Nederland). In the same... More

Gut, Ivo

Director, National Genome Analysis Centre, Barcelona, Spain
Ivo Gut took on the direction of CNAG in January 2010. He qualified in Chemistry at the... More

Hart, Reece

Research & Engineering Fellow, Invitae
Reece Hart is a Research and Engineering Fellow at Invitae, a clinical genome diagnostics... More

Hoischen, Alexander

Assistant Professor, Radbourd Univ. Medical Centre
Alexander Hoischen is affiliated with the department of Human Genetics and the department of... More

Laner, Andreas

Head of Genomics Program, Medical Genetics Centre, Munich
Andreas Laner, PhD Head of Genomics Program Areas of Specialization Genetics of hereditary... More

Loveland, Jane

Annotation Project Leader, EMBL-EBI

Maver, Ales

Medical Doctor, Institute of Medical Genetics - Ljubljana University Medical Centre
Bio TBA  

To Be Announced

More Speakers to be Confirmed

View the Variant Detection 2020 Program Overview

Why you should attend?

Come to Variant Detection 2020 in Piran and you will:

  • LEARN from distinguished speakers.

  • GAIN valuable insights about sequencing technologies.

  • HEAR from THE variant nomenclature expert Johan T. den Dunnen.

  • DISCUSS variant interpretation.

  • FIND OUT about Software & Bioinformatics tools.

  • GROW as an individual in your profession

  • MEET and CONNECT with distinguished human geneticists.

  • Prepare to LEARN but also to EXCHANGE IDEAS

  • DISCOVER the latest technologies and tools from leading technology companies. 

  • Combine a prime opportunity for professional education and development with the added benefits of: 

  1. The beautiful and picturesque city or Piran and Portoroz on the most beautiful part of the Adriatic Coast.

  2. Traditional Slovenian hospitality.

  3. A dynamic meeting destination.

  4. A safe and easy going city.

Who should attend?

  • Molecular geneticists

  • Clinical geneticists

  • Genetics researchers

  • Molecular diagnostics labs

  • Data analysts

  • Medical specialists with interests in genomics

  • anyone interpreting DNA variants on a regular basis

Never miss an Announcement

Subscribe to our genomics meetings mailing list

Questions about this Genomics Meeting?