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
Cambridge, MA 02142
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.
June 18th
8:30 – 9:00 am
Registration & Breakfast
9:00 – 9:15 am
Opening Remarks
9:15 – 10:00 am
Intro to Next Generation Sequencing
10:00 – 11:00 am
Annotation Data and its Uses
11:00 – 11:30 am
Break
11:30 am – 12:30 pm
Workshop: Next Generation Sequencing Data Filtration
12:30 – 1:30 pm
Lunch
1:30 – 2:30 pm
Gene Discovery and Interpretation
2:30 – 3:30 pm
Variant Interpretation and the ClinGen Curation Interface
3:30 – 4:00 pm
Break
4:00 – 5:00 pm
Workshop: Variant and Gene Curation
Social and Networking Event
June 19th
9:00 – 9:45 am
The Use of Clinical Information in Data Analysis
9:45 – 10:45 am
Data Sharing
10:45 – 11:15 am
Break
11:15 am – 12:15 pm
Workshop: Data Sharing Tutorial
12:15 – 1:15 pm
Lunch
1:15 – 2:15 pm
Databases of Functional Data and Next Steps
2:15 – 3:15 pm
Workshop: Functional Databases
3:15 – 3:45 pm
Break
Future Directions Panel & Closing Remarks
