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Identifying ancestry-specific and distal components of disease-associated gene regulation and cellular function

US · IL National Institutes of Health (NIH) grant awarded #nih-5R01HG013671-02

Summary

This project aims to develop new algorithms to robustly map disease-associated genetic variants to disease-critical genes and infer their cell-type-specific regulatory behavior, particularly focusing on understudied non-European populations.

What they want

The project will develop new algorithms to robustly map disease-associated variants to disease-critical genes and infer their cell-type-specific regulatory behavior. This involves three main aims: 1) developing a novel gene-disease mapping technique for understudied non-European populations to discover new disease-critical genes; 2) developing a high-dimensional feature selection technique to detect distal effects on gene expression, linking distal regulatory variants to target genes; and 3) linking variants to genes in cell-type-specific contexts using mixed models for heritability estimation by analyzing rare cell types from single cell RNA-sequencing.
Deliverables
  • New algorithms for robustly mapping disease-associated variants to disease-critical genes
  • Algorithms to infer cell-type-specific regulatory behavior
  • A novel gene-disease mapping technique for understudied populations
  • A high-dimensional feature selection technique to detect distal effects on gene expression
  • Methods to link variants to genes in cell-type-specific contexts using mixed models for heritability estimation
Technical requirements
  • Genome-wide association studies (GWAS) analysis
  • Expression quantitative trait loci (eQTL) studies
  • Development of new algorithms
  • High-dimensional feature selection techniques
  • Single cell RNA-sequencing analysis
  • Mixed models for heritability estimation
  • Gene expression prediction models

Market context

inferred from NAICS
Professional, Scientific & Technical Services
NAICS 541714
US market size
$2.0T
Typical award
$25K – $50M
Typical buyers
All federal civilianDoDStates
Commonly required
8(a)WOSBSDVOSBPE/PMP

Sector-level estimate — full code lookup not yet in catalog.

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