Exome & General Genetics/Research

Session # PB3395

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

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.

 

  • Authors: Hoda Mirsafian; Heather Zimmermann; Laura Hudish; Sami Belhadj; Donavan Cheng; Elizabeth Chao; Rachid Karam; Matthew Schultz
  • Conference: ASHG 2023
  • Date: Friday, Nov 03, 2023 3:00pm - 5:00pm

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