Personalized Allele-specific Expression Profiling Rna Probe Reagents & Algorithms
ID U-6015
Category Diagnostics
Subcategory Genomics
Researchers
Brief Summary
In situ hybridization probes, algorithms, and software to profile allele-specific expression in patient samples.
Problem Statement
Understanding the allele-specific expression effects helps determine how inherited mutations may impact carriers and their offspring. Existing allele expression diagnostics, such as bacterial artificial chromosome (BAC) probes, only work on cultured cells, which increases the time required for testing.
Technology Description
The proposed invention uses in situ hybridization probes to detect allele specific expression in cells and tissues. Nuclear whole transcriptome RNA sequencing is used to provide an intron retention score from samples to resolve expression of target alleles. These tools can resolve epigenetic allelic effects, genomic imprinting and random X-inactivation to monitor health and disease progression, and detect disorders by profiling RNASeq data.
Stage of Development
Proof of Concept
Benefit
- Provides single-cell detection tools for mapping mono-allelic versus bi-allelic expression in blood or tissue biopsies.
- Offers a pipeline to compare RNASeq data and identify abnormal allelic expression to categorize individual patients.
- Large proprietary Atlas/Database of tissue specific human genes with allelic imprinting effects in healthy human body.
- Algorithm tools to discriminate epigenetic allelic effects from genetic defects (cis eQTLs).
Publications
Huang, W., Ferris, E., Cheng, T., Hörndli, C. S., Gleason, K., Tamminga, C…. Gregg, C. (2017). Diverse Non-genetic, Allele-Specific Expression Effects Shape Genetic Architecture at the Cellular Level in the Mammalian Brain. Neuron, 93(5). doi: 10.1016/j.neuron.2017.01.033
Bonthuis, P.J., Huang, W.C., Hörndli, C.S., Ferris, E., Cheng, T., Gregg, C. (2015). Noncanonical genomic imprinting effects in offspring. Cell Press. 12(6):979-991. doi: 10.1016/j.celrep.2015.07.017
IP
Publication Number: US 2018/0087098 A1
Patent Title: Methods For Detecting Rapidly Processed Introns To Evaluate Allelic Expression
Jurisdiction/Country: United States
Application Type: Non-Provisional
Contact Info
Aaron Duffy
(801) 585-1377
aaron.duffy@utah.edu
