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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

*NON-CME pre-masterclasses

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