Although NGS has revolutionised the speed of generating variation information; data analysis and variant interpretation are the most time-consuming steps. With the increase of genomic testing in diagnostics, collecting and curating evidence is necessary to determine if the identified variant has been previously found and if it had any effect.

Analysis and interpretation of variations and their effects have been aided by various computational tools however end users often do not know which method or tools to choose, and how to use these tools to their fullest potential.

This course aims to assist you to:

• find and use the best tools for variant interpretation using various genome browsers,
• walk you through HGVS nomenclature with opportunities to discuss difficult to name variants,
• identify what method to apply and determine where things can go wrong in NGS,
• classify variants using ACMG classification system and learn recent recommendations,
• introduce you to Human Phenotype Ontology, (HPO) and learn how HPO´s can help you in variant prioritization,
• as well as explore topics such as RNA analysis and potential consequences, the mitochondrial genome and more.

If you are interpreting DNA variants on a regular basis we will cover all the basics you need to know and more.
 

• Clinical reasons - (cases)
• Technical reasons - what can go wrong
• Technical reasons - what we almost missed
• Beyond the exome solutions

• Ensembl
• UCSC
• IGV

• Potential consequences on the RNA Level (theory); mechanisms of RNA disease
• RNA analysis: how to interpret RNA data to expand the Dx yield (practice)
• Perspective for Dx: Proteomics, Methylation, PRS,  (Somalogic, Episign, Allelica) and how to translate to diagnostics (ACMG)
• Other TBA

• SNV variant classification workshop - basic
• SNV variant classification workshop - advanced
• Variant Classification - CNV Recommendations 
• CNV variant classification workshop 
• UCSC recommended track sets 
• Integration of phenotypic and genomic data to diagnose patients with rare diseases (GPAP - platform)

The course will take place from the 14th to the 16th of October 2024 in Palermo, Italy.

The course will be a mix of theory and practice presented by invited expert speakers. Practical sessions will be a mix of academic and commercial demonstrations giving course participants experience with genome informatics tools.

We invite you to submit an abstract (but you do not need to) and look forward to your participation at this dynamic event.

View our previous courses here.

Location

NH Palermo
Foro Italico Umberto, 22/B

Palermo - Italy

This course is specifically designed for people working in the lab plus biologists/clinicians/counsellors who interpret variants.

Each workshop has a dedicated expert in the field who will guide participants and provide practical examples and exercises.

By the end of the course you should have a better understanding of which test to use, where and how to find all the relevant sources for variant interpretation and ultimately improve the quality of your genetic diagnostic process.

Previous participants described the course as “educational, useful and informative” anticipating that it would improve their work.

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.

veptc 2024 will be of interest to: 

• 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

The language of instruction will be ENGLISH. 

You are required to bring a laptop to participate.

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