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.
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
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