Walter J. Burdette Workshop on Rare Disease Analysis

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