Course Offering

Interpreting Genomes for Rare Disease:Variant and Gene Interpretation

Presented by:

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

*Application for CEUs from the The National Society of Genetic Counselors (NSGC) is pending

Preliminary Agenda (subject to change):


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, 2018

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

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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