Course Offering

Interpreting Genomes for Rare Disease: Variant and Gene Interpretation

Presented by:

Check back this fall for more details on the 2019 conference.


2018 Keynotes Speakers Include


Course Overview:
Attendees of this course received both lecture-based and hands on learning opportunities. At the end of the course attendees understood the processes of next generation sequencing data generation, comprehended the guidelines and best practices for variant and gene curation, recognized the role for clinical information in genomic analysis, appreciated the role of data sharing in genomic interpretation, and gathered knowledge about functional databases.

June 18th - 19th, 2018
Broad Institute


Recordings from the 2018 Course:

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


Event sponsored by