MAY 13, 2015 1:30 PM PDT

Epigenomics of common, rare, and somatic variants underlying disease and cancer

Speaker
  • Professor, Computer Science and AI Lab, Director, MIT Computational Biology Group, Broad Institute of MIT and Harvard
    BIOGRAPHY

Abstract

Perhaps the greatest surprise of genetic studies of human disease is that 90% of top-scoring disease-associated loci lie outside protein-coding regions. This has increased the urgency of mapping non-coding DNA elements and regulatory circuits, in order to understand the molecular basis of human disease. To address this challenge, the Roadmap Epigenomics program has sought to systematically characterize the epigenomic landscape in diverse primary human cells and tissues, resulting in the annotation of 2.3M enhancer elements across 127 tissues and cell types, and tissue-specific regulatory networks linking enhancers to their upstream regulators and target genes. In this talk, I will describe the use of these annotations for understanding the molecular basis of genetic differences in common disease and cancer: (1) We uncover the mechanistic basis of GWAS hits, predicting and experimentally validating the causal variants, the cell types in which they act, the upstream regulators that target them, the downstream genes they target, and their molecular, cellular and organismal phenotypes in the context of obesity. (2) We combine genetic and epigenomic evidence to prioritize and experimentally validate weakly-associated variants in the context of cardiac repolarization phenotypes, showing that epigenomic data enables robust discovery with much smaller cohorts. (3) We use our regulatory predictions to identify new cancer genes based on recurrent somatic mutations in their linked upstream regulatory elements, revealing out-of-context de-repression as a common cancer strategy in the context of prostate cancer. These three applications, spanning the spectrum of common, rare, and somatic variants, illustrate the power and broad applicability of epigenomic annotations and regulatory networks for understanding human disease and cancer.


Show Resources
You May Also Like
SEP 14, 2021 7:00 AM PDT
C.E. CREDITS
SEP 14, 2021 7:00 AM PDT
Date: September 14, 2021 Time: 7am PDT, 10am EDT, 4pm CEST A conventional thermal cycler has long been a commodity product in the lab and end-point PCR techniques can be completed almost wit...
MAY 11, 2021 10:00 AM PDT
C.E. CREDITS
MAY 11, 2021 10:00 AM PDT
Date: May 11, 2021 Time: 10:00zm PDT Your samples are some of the most valuable assets in the laboratory. After spending countless hours on extraction and preparation, your conclusions could...
SEP 17, 2021 12:00 PM CST
C.E. CREDITS
SEP 17, 2021 12:00 PM CST
Date: September 16, 2021 Time: 9:00pm (PDT), 12:00am (EDT) 3D cellular models like organoids and spheroids offer an opportunity to better understand complex biology in a physiologically rele...
OCT 27, 2021 8:00 AM PDT
C.E. CREDITS
OCT 27, 2021 8:00 AM PDT
Date: October 27, 2021 Time: 8:00am (PDT), 11:00am (EDT) Learn about how brightfield images can take your flow cytometry data to the next level. Join Dr. Cora Chadick, Technical Director, as...
APR 22, 2021 5:00 PM CEST
APR 22, 2021 5:00 PM CEST
Date: April 22, 2021 Time: 8:00am (PDT), 11:00am (EDT), 5:00pm (CEST) System transcriptomics of the schizophrenia brain - Phillip Khaitovich Schizophrenia tops the psychiatric disorder l...
JUN 09, 2021 7:00 AM PDT
C.E. CREDITS
JUN 09, 2021 7:00 AM PDT
Date: June 9, 2021 Time: 09 June 2021, 7am PDT, 10am EDT, 4pm CEST cells with dramatic implications on the validity of past cell culture related research. The fact that at least 509 cell lin...
MAY 13, 2015 1:30 PM PDT

Epigenomics of common, rare, and somatic variants underlying disease and cancer


Specialty

Gene Expression

Research And Development

Big Data

Dna

Tumor

Cancer Research

Cancer

Biomarkers

Oncology

Earth Science

Gene Sequencing

University

Drug Discovery

Mass Cytometry

T-Cells

Geography

Asia50%

Europe50%

Registration Source

Website Visitors100%

Job Title

Student50%

Medical Laboratory Technician50%

Organization

Manufacturer - Other50%

Academic Institution50%


Show Resources
Loading Comments...
Show Resources