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Scientists Map Genetic Evolution of Chronic Lymphocytic Leukemia to Richter's Syndrome

Scientists Map Genetic Evolution of Chronic Lymphocytic Leukemia to Richter's Syndrome
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Connecting enhancer variants, genes, and disease; synthetic spike binders; measuring tumors' cellular mix; and more


Posted April 9th, 2021 for Broad Institute
Welcome to the April 9, 2021 installment of Research Roundup , a recurring snapshot of recent studies published by scientists at the Broad Institute and their collaborators.
Enhancing V2F maps
GWASs have yielded thousands of genetic variants linked to disease. To help figure out the function of many of these variants, Joseph Nasser (now at Caltech), Drew Bergman, Charles Fulco (now at Bristol Myers Squibb), Philine Guckelberger (now at the Free University of Berlin), Benjamin Doughty (now at Stanford University), Eric Lander (on leave), Jesse Engreitz (now at Stanford), and colleagues used their activity-by-contact (ABC) model to build maps that connect enhancers to their target genes in 131 cell types and tissues. Using those maps, the team linked more than 5,000 GWAS signals to nearly 2,250 genes across 72 traits and diseases. The researchers also predicted which enhancers contain risk variants for inflammat ....

Joseph Nasser , Wendy Garrett , Harvard Chan Microbiome , Curtis Huttenhower , Stefan Dentro , Guoping Feng , Ben Deverman , Kerstin Haase , Bradley Pentelute , Amit Deshwar , Eric Lander , Ignaty Leshchiner , Philine Guckelberger , Benjamin Doughty , Maxime Tarabichi , David Liu , Yulia Rubanova , Jesse Engreitz , Jeff Wintersinger , Charles Fulco , Jonas Demeulemeester , Broad Institute , Geoff Macintyre University Of Cambridge , Somatic Cell Genome Editing Consortium , Public Health Center , Stanley Center ,