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PRECISION MEDICINE
AND THE FUTURE
OF GENOMICS
PMFG 2024 SUMMIT

Overview /Master Class: Rare-Gen

All Sessions 1 December 2024 (Day 1) 2 December 2024 (Day 2)

MASTERCLASS IN GENOMIC ANALYSIS

RARE-GEN: Hands-On Rare Disease Genomic Analysis Masterclass

Hosted by Sidra Medicine Genetics and Metabolics Disorders Clinical Research Program, GA4GH and ClinGen Resource

Masterclass Registration

Speakers
Dr. Marina DiStefano
(ClinGen) Principle Investigator, Broad Institute/MIT, USA		 Dr. Peter Goodhand
CEO, GA4GH
Canada		 Dr. Erin Riggs
(ClinGen) Principle Investigator, Geisinger School of Medicine, USA

1 December 2024 (Day 1)

09:00-09:15

Welcome and Introduction

09:15-10:00

The Clinical Genome (ClinGen) ClinGen overview (Including whole ClinGen website navigation)

  • Dr. Erin Riggs
10:00-10:30

Global Alliance for Genomics and Health (GA4GH) overview – why are standards important

  • Peter Goodhand
10:30-11:00

Coffee Break and Networking

11:00-11:30

What is gene curation and why is it important?

  • Dr. Erin Riggs

Resources that support gene curation:

11:30-12:00

The Online Mendelian Inheritance in Man (OMIM)

  • Dr. Marina DiStefano
12:00-12:30

The Gene Curation Coalition (GenCC)

  • Dr. Marina DiStefano
12:30-13:30

Lunch Break and Networking

13:30-14:00

ClinGen Gene Curation

  • Dr. Erin Riggs
14:00-14:30

Assessing a variant in a candidate gene Example 1

  • Dr. Marina DiStefano
14:30-15:00

Assessing a variant in a candidate gene Example 2

  • Dr. Erin Riggs
15:00-16:00

The Genome Aggregation Database (gnomAD)

  • Dr. Marina DiStefano
16:00-16:30

Interpretations of clinically relevant variants (ClinVar)

  • Dr. Erin Riggs
16:30-17:00

The Clinical Genome (ClinGen) Variant Curation

  • Dr. Marina DiStefano
17:00-17:30

Questions and Discussion

End of Day-1

2 December 2024 (Day 2)

Example variant curation(S), (assessing a variant in a known gene)

09:00-09:30

Example 1

  • Dr. Marina DiStefano
09:30-10:00

Example 2

  • Dr. Marina DiStefano
10:00-10:30

CNV example

  • Dr. Erin Riggs
10:30-11:00

Coffee Break and Networking

11:00-11:30

Putting it all together: How to use ClinGen’s website?

  • Dr. Erin Riggs
11:30-12:30

Putting it all together: WGS analysis and workflow

  • Dr. Marina DiStefano
12:30-13:30

Lunch Break and Networking

13:30-14:15

Creating Global Resources to Support Variant Classification

  • Dr. Peter Goodhand
14:15-14:30

Closing Remarks and Award Ceremony

Masterclass Registration