# The joint WCM-NYGC Center for Functional and Clinical Interpretation of Tumor Profiles

> **NIH NIH U24** · WEILL MEDICAL COLL OF CORNELL UNIV · 2024 · $385,514

## Abstract

The Weill Cornell Medicine-New York Genome Center (WCM-NYGC) Center for Functional and Clinical
Interpretation of Tumor Profiles is submitted in response to RFA-CA-20-053. Continuing our
involvement in the Genome Data Analysis Network (GDAN) over the past five years and leveraging
novel algorithms and methods developed by our group, the Center will perform integrative analyses of
coding and non-coding variants to unravel the function of specific classes of mutations and assess their
clinical potential. As specified in the RFA, we have chosen to focus on two Core Competencies: (1)
DNA Mutations (in coding and non-coding regions, somatic and/or germline) and (2) Copy
Number
/
Purity
Analysis
,with a focus on complex structural variants.Our team has developed novel algorithms
and pipelines for the analysis of DNA mutations in coding and non-coding regions, characterization of
complex structural variants, tumor evolution and linked-read sequencing. We have developed three
Specific Aims. In Aim 1, we will perform systematic clinical and functional annotation of coding and non-
coding mutations. This includes (1) clinical annotation of coding variants, (2) prioritization and functional
annotation of non-coding variants (3) integration of transcriptomic analyses, such as cell type
deconvolution of impure tumor samples to provide stromal context to somatic variants (4) correlation of
variants with clinical phenotypes, including response to therapy. In Aim 2, we will analyze clinically
relevant signatures of genome-wide somatic alteration patterns. We will utilize our state-of-the-art
analytic tools for complex structural variant characterization and mutational topography to link (1)
mutational processes and (2) cell-of-origin footprints to cancer outcome and drug response. We will
also (3) adapt our cutting-edge genome graph visualization tools to build interactive data portals for
browsing complex structural variation patterns in impure samples. In Aim 3, we will dentify and
characterize variants that drive tumor evolution using multi-samples analysis. We will apply our state-
of-the-art computational tools to study structural variant evolution across multiple tumor samples to (1)
identify drivers of drug resistance and relapse in matched primary and recurrence/metastasis samples
and (2) assess genomic divergence between primary tumors and matched tumor organoids.

## Key facts

- **NIH application ID:** 10918345
- **Project number:** 5U24CA264032-04
- **Recipient organization:** WEILL MEDICAL COLL OF CORNELL UNIV
- **Principal Investigator:** Olivier Elemento
- **Activity code:** U24 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2024
- **Award amount:** $385,514
- **Award type:** 5
- **Project period:** 2021-09-16 → 2026-08-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10918345

## Citation

> US National Institutes of Health, RePORTER application 10918345, The joint WCM-NYGC Center for Functional and Clinical Interpretation of Tumor Profiles (5U24CA264032-04). Retrieved via AI Analytics 2026-05-22 from https://api.ai-analytics.org/grant/nih/10918345. Licensed CC0.

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