High-throughput allele-specific expression analysis can detect allelic imbalance in clinical patient samples as a proxy for quantitative measures of gene expression

Date:
Friday, Nov 3, 2023 3:00pm – 5:00pm
Conference:
ASHG 2023
Authors:
Donavan Cheng, Elizabeth Chao, Heather Zimmermann, Hoda Mirsafian, Laura Hudish, Matthew Schultz, Rachid Karam, PhD, Sami Belhadj

Presenting Author: Hoda Mirsafian

Take home points: 

  1. High-throughput allele specific expression analysis could be used to identify patients with allele-specific expression of unknown origin.   
  1. Using high-throughput clinical paired DNAseq and RNAseq samples to detect allelic differences in gene expression caused by cis-acting variants.