Geneyx Courses: Clinical Variant Interpretation Analysis

Hands-on training with experts on the principles of clinical variant interpretation analysis using the ACMG guidelines

What you'll learn
This 2-month course with ACCESS TO REAL CASES emphasizes the scientific principles and tools essential for genomic analysis and interpretation
The online sessions will feature active engagement and will be conducted by experts in their respective fields.
Each participant will be provided access to the Geneyx platform for training purposes
Upon completion, participants will be awarded a certification for the course
Should you have questions in the lecture or the course assignment, please reach out to us.

Requirements
Please note that, previous knowledge is mandatory for the following modules: Basic genetics, Population genetics, and Genetic work-up methodologies.

Description
This course with ACCESS TO REAL CASES emphasizes the scientific principles and tools essential for genomic analysis and interpretation within the context of clinical practice. We aim to provide you with the necessary skills for navigating the rapidly changing landscape of genomic & personalized medicine. I would like to introduce your senior variant scientists, who are experts in their respective fields: Hagar Mor Shaked, PhD, and Ali Tabish, PhD. Each participant will have access to the Geneyx Analysis platform for training purposes. Upon completion, participants will be awarded a certification for the course.Topics:1. Introduction to NGS, Bioinformatic pipelines2. Introduction to Variant interpretation, tools, and databases (ClinVar, gnomAD, Decipher, etc.)3. Variant interpretation, cases from the clinic4. ACMG/AMP guideline for single nucleotide variant interpretation, ClinGen guidelines – part I5. ACMG/AMP guideline for single nucleotide variant interpretation, ClinGen guidelines – part II6. Structural variants, copy number variants, tools, and databases (DGV, gnomAD-SV, etc.)7. ACMG/AMP guideline for copy number variant interpretation8. Solving cases together, part I (exomes and genomes)9. Solving cases together, part II (Long reads sequencing). Future directions in clinical genomics and course summaryHere is what you will learn:Tools for Variant InterpretationSingle nucleotide variant (SNV) and copy number variant analysis (CNV)The ACMG guidelines and interpretation for SNV and CNVCase studiesA protein view of variantsExome sequencing analysisWhole genome sequencing analysis

Who this course is for
This course is designed for the health professionals working in diverse domains; clinical professionals (consultants and trainees) and clinical scientists who require knowledge and hands-on-training of the Principles of Variant Interpretation and in-depth understanding of American Collage of Medical Genetics variant interpretation guidelines.
Gain hands-on variant interpretation training on the Geneyx Analysis platform