# A Catalog of Cell Types and Genomic Elements in Tissues, Organoids and Disease

> **NIH NIH UM1** · BROAD INSTITUTE, INC. · 2020 · $1,979,394

## Abstract

Project Summary
The proposed project aims to fundamentally advance the ENCODE Consortium's catalog of functional
sequence elements in the human genome. ENCODE has already established a seminal resource that is
enabling human biology, genetics and disease research. However, progress towards the Consortium's goal of
identifying all functional genomic elements has been constrained by modest assay throughput and by the fact
that functional elements tend to be exquisitely context-specific, only declaring themselves in specific
developmental intervals, in specific disease settings, or in specific cell types obscured by tissue heterogeneity.
 To overcome these limitations and hasten progress towards ENCODE goals, the proposed project will
purify highly specialized cell types from normal human tissues and blood, from tumors and other disease
specimens, and from laboratory 'organoid' models that faithfully recapitulate developing brain, kidney or gut.
These purified cell types will be applied to a multiplexed pipeline capable of acquiring genome-wide chromatin
state maps with unprecedented throughput and low cost. Thousands of maps reflecting different chromatin
modifications in different cell types will be integrated to derive a comprehensive set of sequence elements in
the human genome, annotated by their predicted functions and cell type-specificities.
 The project will bring together a diverse team of experts in human biology and development, chromatin
biology, genomics, and production research. This scientific team will coordinate closely with other Data
Production, Coordination, Analysis and Functional Characterization Centers in the Encode Consortium to
assemble a common catalog of the locations and cell type-specific functions of regulatory elements in the
human genome. These annotations, and all primary data collected in the project, will be made freely available
to the scientific community, with the goal to catalyze biomedical research and advance genomic medicine.

## Key facts

- **NIH application ID:** 9858383
- **Project number:** 5UM1HG009390-04
- **Recipient organization:** BROAD INSTITUTE, INC.
- **Principal Investigator:** BRADLEY Evan BERNSTEIN
- **Activity code:** UM1 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2020
- **Award amount:** $1,979,394
- **Award type:** 5
- **Project period:** 2017-02-01 → 2022-01-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/9858383

## Citation

> US National Institutes of Health, RePORTER application 9858383, A Catalog of Cell Types and Genomic Elements in Tissues, Organoids and Disease (5UM1HG009390-04). Retrieved via AI Analytics 2026-06-04 from https://api.ai-analytics.org/grant/nih/9858383. Licensed CC0.

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