Course Offering

Interpreting Genomes for Rare Disease:Variant and Gene Interpretation

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Keynotes Speakers Include

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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 31): $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 - Daniel MacArthur, PhD

10:00am – 11:00 am        Annotation Data and its Uses - Anne O’Donnell-Luria, MD, PhD

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 Curation - Marina DiStefano, PhD

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 - Steven Harrison, PhD

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 - Heidi Rehm, PhD, FACMG

2:30 pm – 3:30 pm           Patient Perspective on Discovery and Next Steps - Sonia Vallabh, PhD

3:30 pm – 4:00 pm           Break

4:00 pm – 5:00 pm           Future Directions Panel & Closing Remarks

For video recordings of the 2018 course, please see below:

Intro to Next Generation Sequencing (Speaker: Daniel MacArthur)

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

Gene Discovery and Interpretation (Speakers: Erin Riggs & Marina Distefano)
Erin Riggs:

Marina Distefano:

Variant Interpretation and the ClinGen Curation Interface (Speaker: Steven Harrison)

The Use of Clinical Information in Data Analysis (Speaker: Samantha Baxter)

Data Sharing (Speaker: Heidi Rehm)

Future Directions Q&A Panel & Closing Remarks

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