# Core B:  Human Genetics and Genomics Core

> **NIH NIH P01** · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · 2022 · $173,910

## Abstract

Project Summary/Abstract
The rapid growth in next generation sequencing techniques and proteomics has revolutionized the study of
human disease, paving the way for the advent of personalized medicine and advancing the study of rare
genetic syndromes. While this has brought new opportunities to examine samples from human subjects with
an unprecedented degree of granularity, as a result, we are faced with larger and increasingly complex data
sets of genetic and molecular signatures that require specialized expertise for analysis and interpretation. Such
approaches are ideal for the study of samples from human subjects with genetic mutations or syndromes
where cellular or genetic changes may be difficult to detect. Barriers to successful and more efficient studies in
the area of rare genetic disorders include access to such rare samples as well as the analytical and
computational expertise required for advanced genomic and proteomic techniques. The Human Genetics and
Genomics Core will reduce these barriers by optimizing collection, access and sharing of rare samples as well
as supporting the analysis, implementation and data management attendant to these techniques. By reducing
barriers in our shared approaches to the study of rare STAT3 mutations, we envision that this will allow more
efficient coordination of our collaborative efforts across the P01 projects as well as allowing more timely and
rapid analysis of such rare human samples.

## Key facts

- **NIH application ID:** 10328100
- **Project number:** 1P01AI155393-01A1
- **Recipient organization:** UNIVERSITY OF CALIFORNIA, SAN FRANCISCO
- **Principal Investigator:** Alexander Marson
- **Activity code:** P01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2022
- **Award amount:** $173,910
- **Award type:** 1
- **Project period:** 2022-02-17 → 2027-01-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10328100

## Citation

> US National Institutes of Health, RePORTER application 10328100, Core B:  Human Genetics and Genomics Core (1P01AI155393-01A1). Retrieved via AI Analytics 2026-05-23 from https://api.ai-analytics.org/grant/nih/10328100. Licensed CC0.

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