Skip to Main Content

Walter J. Burdette Workshop on Rare Disease Analysis

December 3, 2019, 9am-5pm

To register for this workshop, please fill out the registration form or click the event poster. 


Program


9:00am Opening remarks  
Monkol Lek, Assistant Professor, Department of Genetics 

9:20am Rare disease: where are we now 
Yong-hui Jiang, Professor and Chief of Medical Genetics 

10:00am Sequencing technologies 
Monkol Lek, Assistant Professor, Department of Genetics 

10:30am Coffee break 

10:45am Processing pipelines and variant calling 
Jim Knight, Director of Bioinformatics, Yale Center for Genome Analysis 

11:15am Clinical sequencing and assays 
Hui Zhang, Assistant Professor of Genetics and of Pediatrics; Co-Director, DNA Diagnostic Lab

11:45am Annotation, analysis and interpretation 
Anne O’Donnell Luria - Associate Director, Broad Center for Mendelian Genomics

12:30pm Pick up lunch 

12:40pm Hands-on casework
Nicole Lake (Yale Genetics, Lek group)
Francesc Lopez (Yale Genetics, Center for Mendelian Genomics) 
Weizhen Ji (Yale Genetics, Lek group)

1:40pm Discussion on each case in workshop 
Sander Pajusalu (Yale Genetics, Lek group)

2:00pm Computational analysis of variants: coding versus non-coding
Mark Gerstein, Professor of Biomedical Informatics and of Molecular Biophysics & Biochemistry, of Computer Science, and of Statistics & Data Science 

2:40pm Functional validation: a case study using human organoids
Kaya Bilguvar, Assistant Professor of Genetics; Associate Director, Yale Center for Genome Analysis 

3:05pm Functional validation: a case study using zebrafish
Stefania Nicoli, Associate Professor of Genetics and of Medicine (Cardiology) 

3:30pm Coffee break 

3:40pm Data sharing: Yale Matchmaker Exchange 
Amy Zhou (Yale Genetics, Lek group) 

4pm Rare genetics at scale - The Yale Generations project
Mike Murray, Professor of Genetics and Director of Clinical Operations, Yale Center for Genomic Health 

4:30 Solving the unsolved - Group discussion led by Monkol Lek 

4:50 Closing remarks 
Monkol Lek, Assistant Professor, Department of Genetics 

Places are limited and registration is essential 
Questions? Email monkol.lek@yale.edu