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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