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Resolving Mendelian Diseases with Long-Read Multiome Sequencing
Webinar

Resolving Mendelian Diseases with Long-Read Multiome Sequencing

In this webinar, Andrew Stergachis will highlight how long-read multiomic tools reveal regulatory mechanisms in rare genetic conditions.

Brought to you byEpiCypher

This webinar will be hosted live and available on-demand.

Tuesday, September 30th, 2025
2:00 - 3:00 PM ET

Subtle disruptions in noncoding genomic regions frequently drive Mendelian diseases by altering chromatin architecture, regulatory activity, and other molecular pathways. However, most chromatin profiling techniques do not resolve these changes across long genomic regions. Fiber-seq, a synchronous long-read multiomic method, fills this gap by directly mapping chromatin accessibility, DNA methylation, and nucleotide sequence along individual chromatin fibers.

In this webinar sponsored by EpiCypher, Andrew Stergachis will discuss how scientists use Fiber-seq to pinpoint pathogenic noncoding variants and uncover their mechanistic roles in Mendelian disorders.

Topics to be covered:

  • Applying various long-read omic approaches to gain comprehensive insights into genomic, epigenomic, and transcriptomic patterns
  • Using synchronous long-read multiomic methods to identify causal variants in rare and common diseases
  • Exploring AI-driven computational tools for analyzing and interpreting multiomic data
Andrew Stergachis

 Andrew Stergachis, MD, PhD
 Associate Professor
 Department of Medicine and Genome Sciences
 University of Washington

Top Image Credit:

iStock: Alexey Brin

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