Course Offering

Interpreting Genomes for Rare Disease: Variant and Gene Interpretation

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Registration is closed.

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 gather knowledge about functional databases.

June 18th - 19th, 2018
Broad Institute
415 Main Street
Cambridge, MA, USA

Cost (meals included):
$150 - General attendance
$30 - Networking Event (cocktails and food included)

*The National Society of Genetic Counselors (NSGC) has authorized Broad Institute and ClinGen to offer up to 1.17 CEUs or 11.75 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.


Preliminary Agenda (subject to change):

MONDAY, JUNE 18, 2018

8:30 am – 9:00 am                 Registration & Breakfast

9:00 am – 9:15 am                 Opening Remarks

9:15 am - 10:00 am                Intro to Next Generation Sequencing
                                                  Speaker: Daniel MacArthur

10:00am - 11:00 am              Annotation Data and its Uses
                                                 Speaker: Anne O’Donnell-Luria

11:00 am - 11:30 am             Break

11:30 am - 12:30 pm            Workshop: Next Generation Sequencing Data Filtration

12:30 pm -1:30 pm               Lunch

1:30 pm - 2:30 pm                Gene Discovery and Interpretation
                                                 Speakers: Erin Riggs & Marina Distefano

2:30 pm - 3:30 pm                Variant Interpretation and the ClinGen Curation Interface
                                                 Speaker: Steven Harrison

3:30 pm - 4:00 pm                Break

4:00 pm - 5:00 pm                Workshop: Variant and Gene Curation

5:00 pm -7:00 pm                 Social and Networking Event


TUESDAY, JUNE 19, 2018

9:00 am – 9:45 am                 The Use of Clinical Information in Data Analysis
                                                  Speaker: Samantha Baxter

9:45 am - 10:45 am               Data Sharing
                                                  Speaker: Heidi Rehm

10:45am - 11:15 am              Break

11:15 am - 12:15 pm             Workshop: Data Sharing Tutorial

12:15 pm -1:15 pm                Lunch

1:15 pm - 2:15 pm                 Databases of Functional Data and Next Steps
                                                  Speaker: Melissa Haendel

2:15 pm - 3:15 pm                 Workshop: Functional Databases
                                                 Speaker: Chris Lemke

3:15 pm - 3:45 pm                 Break

3:45 pm - 5:00 pm                 Future Directions Q&A Panel & Closing Remarks
                                                  Moderator: Samantha Baxter
                                                  Speakers: Heidi Rehm, Daniel MacArthur, Melissa Haendel, Erin Riggs,
                                                  Anne O'Donnell-Luria, Marina Distefano & Steven Harrison


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