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The Inaugural Walter J. Burdette Trainee Symposium on Human Genomics, on Dec. 2

November 26, 2019

The Department of Genetics will host participants from multiple institutions to discuss various aspects of human genomics.

Date: Monday, Dec. 2, 2019

Time: 9:00 a.m. to 5:00 p.m.

Location: Brady Memorial Auditorium, 310 Cedar Street, room B131, New Haven

Lunch will be provided.


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

Ida Surakka, University of Michigan

Impact of rare loss-of-function mutations on population health

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

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

Submitted by Robert Forman on November 27, 2019