Khóa học Geneyx: Phân tích Giải thích Biến thể Lâm sàng

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.

Geneyx proudly partners with both PacBio and ONT. We encourage you to contact their sales teams for further inquiries.

Topics:

1. Introduction to NGS, Bioinformatic pipelines

2. Introduction to Variant interpretation, tools, and databases (ClinVar, gnomAD, Decipher, etc.)

3. Variant interpretation, cases from the clinic

4. ACMG/AMP guideline for single nucleotide variant interpretation, ClinGen guidelines – part I

5. ACMG/AMP guideline for single nucleotide variant interpretation, ClinGen guidelines – part II

6. Structural variants, copy number variants, tools, and databases (DGV, gnomAD-SV, etc.)

7. ACMG/AMP guideline for copy number variant interpretation

8. Solving cases together, part I (exomes and genomes)

9. Solving cases together, part II (Long reads sequencing). Future directions in clinical genomics and course summary

Here is what you will learn:

• Tools for Variant Interpretation

• Single nucleotide variant (SNV) and copy number variant analysis (CNV)

• The ACMG guidelines and interpretation for SNV and CNV

• Case studies

• A protein view of variants

• Exome sequencing analysis

• Whole genome sequencing analysis