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Variant Detection 2022: 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 2022 (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 event. 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 genetics. Although human genetics will be heavily covered at this event it is not limited to human genetics so you may submit abstracts related to other organisms.

The language will be ENGLISH. There will be no translation service.

Where will Variant Detection 2022 be held?

Variant Detection 2022 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.

THE VENUE MAY CHANGE - subscibe to our mailing list to find out the details when they are available.

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
  • Tissue on a Chip
  • & more...

Sponsored Presentations



Hands on Workshop: Introduction to variant interpretation and reporting using an integrated analysis pipeline

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

Johan T. den Dunnen

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

Gall, Astrid

Ensembl Outreach Officer, European Bioinformatics Institute
Ensembl Outreach Officer - Yates team: Genomics Technology Infrastructure Astrid joined Ensembl... 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

Robert Kuhn

Associate Director, UCSC Genome Browser, UC Santa Cruz Genomics Institute, Santa Cruz, CA, USA
Associate Director UCSC Genome Browser UC Santa Cruz Genomics Institute, Santa Cruz, CA,... More

Andreas Laner

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
Jane has been a Project Leader for Annotation in the Ensembl team since June 2017, as part of... More

Ales Maver

Medical Doctor, Institute of Medical Genetics - Ljubljana University Medical Centre
Institute of Medical Genetics - Ljubljana University Medical Centre, Ljublijana, Slovenia Bio... More

To Be Announced

more speakers to be confirmed - watch this space!

Sponsors & Exhibitors

View the Variant Detection 2020 Program Overview

Why you should attend?

Come to Variant Detection 2022 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

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