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Walter J. Burdette Trainee Symposium on Human Genomics

December 2, 2019, 9am-5:00pm, Brady Auditorium, 310 Cedar Street

For the full program please see below.


Walter J. Burdette Workshop on Rare Disease Analysis



Program

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

9:20am Opening Plenary
Dr. Eimear Kenny, Associate Professor and Director, Mount Sinai Center for Genomic Health
10:10am Coffee break

10:30am Session 1
Sumantra Chatterjee, NYU School of Medicine
Disrupted genetic and cellular networks in Hirschsprung disease

José L. McFaline-Figueroa, University of Washington
Massively multiplex chemical transcriptomics at single-cell resolution

Yen-Chen (Anne) Feng, MGH and The Broad Institute
Ultra-rare genetic variation in the epilepsies: a whole-exome sequencing study of 17,606 individuals

Ida Surakka, University of Michigan
Impact of rare loss-of-function mutations on population health

12:30pm Lunch served in foyer

1:30pm Session 2

Arthur Lee, Boston Children’s Hospital, Broad Institute of MIT and Harvard
Leveraging single-cell functional genomics towards non-coding variant interpretation in Mendelian regulatory disorders

Gillian Belbin, Icahn School of Medicine at Mount Sinai
Leveraging Fine-scale Structure to Explore Disease Risk in Health Systems

Zeynep H. Coban Akdemir, Baylor College of Medicine
Clan genomics and the population genetic architecture of disease: Long-sized AOH regions reveal IBD haplotypes that drive mutational burden at a locus

3:00pm Coffee break

3:20pm Session 3
Cigdem Sevim Bayrak, Icahn School of Medicine at Mount Sinai
Computational evaluation of mutations and genes underlying human disease

Ryan Collins, MGH, Harvard Medical School and The Broad Institute
gnomAD-SV: An open resource of structural variation for medical and population genetics

Kymberleigh Pagel, The Johns Hopkins University
OpenCRAVAT: an open source collaborative platform for the annotation of human genetic variation

4:50pm Closing remarks
Caroline Hendry, Scientific Director, Department of Genetics

5pm depart