Course Offering

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    Interpreting Genomes for Rare Disease: Variant and Gene Interpretation

 Presented by


Keynote Speakers

Daniel MacArthur

Daniel MacArthur
Broad Institute, MGH

Heidi Rehm

Heidi Rehm
Broad Institute, MGH/BWH

Sonia Vallabh

Sonia Vallabh
Broad Institute

Course Overview

Attendees of this course will receive both lecture-based and hands-on learning opportunities. At the end of the course, attendees will understand the processes of next generation sequencing data generation, comprehend the guidelines and best practices for variant and gene curation, recognize the role for clinical information in genomic analysis, appreciate the role of data sharing in genomic interpretation, and hear a patients perspective on diagnosis and next steps.

May 15th – 16th, 2019
Broad Institute
415 Main Street
Cambridge, MA, USA

Cost (meals included)

Early-bird Registration (February - March 30): $225
Regular Registration (April 1 - either full or May 10): $275
Onsite Registration (if not full): $350

*The National Society of Genetic Counselors (NSGC) has authorized the Broad Institute of MIT and Harvard
and ClinGen to offer up to 1.25 CEUs or 12.50 Category 1 contact hours for the activity Interpreting Genomes
for Rare Disease: Variant and Gene Interpretation. The American Board of Genetic Counseling (ABGC) will
accept CEUs earned at this program for the purposes of genetic counselor certification and recertification.

Attendees planning to collect CEUs will be asked to bring a $25 check to registration. Checks should be made out directly to the National Society of Genetic Counselors.


8:30 am – 8:45 am Registration & Breakfast
8:45 am – 9:00 am Opening Remarks
9:00 am – 10:00 am Intro to Next Generation Sequencing
10:00am – 11:00 am Annotation Data and its Uses
11:00 am – 11:30 am Break
11:30 am – 1:00pm Workshop: Next Generation Sequencing Data Filtration
1:00 pm – 2:00 pm Lunch
2:00 pm – 3:30 pm Gene Discovery and Interpretation
3:30 pm – 4:00 pm Break
4:00 pm – 5:30 pm Workshop: Gene Curation
5:30 pm – 7:00 pm Social and Networking Event

THURSDAY, MAY 16, 2019
9:00 am – 10:30 am Variant Interpretation and the ClinGen Curation Interface
10:30 am – 11:00 am Break
11:00 am – 12:30 pm Workshop: Variant Curation
12:30 pm – 1:30 pm Lunch
1:30 pm – 2:30 pm Data Sharing
2:30 pm – 3:30 pm Patient Perspective on Discovery and Next Steps
3:30 pm – 4:00 pm Break
4:00 pm – 5:00 pm Future Directions Panel & Closing Remarks

Access video recordings of previous 2019 course

Intro to Next Generation Sequencing (Speaker: Daniel MacArthur)


Gene Curation (Speaker: Marina DiStefano)


Data Sharing (Speaker: Heidi Rehm)


Future Directions Panel


Annotation Data & Uses (Speaker: Anne O’Donnell- Luria)


Variant Interpretation (Speaker: Steven Harrison)


Patient Perspective (Speaker: Sonia Vallabh)

sonia video