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Updated: Jul 14, 2025
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An Integrated Platform for Genome-wide Mapping of Chromatin States Using High-throughput ChIP-sequencing in Tumor Tissues
Published on: April 5, 2018
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Synchronized long-read genome, methylome, epigenome, and transcriptome for resolving a Mendelian condition
Mitchell R Vollger1,2, Jonas Korlach3, Kiara C Eldred4
1University of Washington School of Medicine, Department of Genome Sciences, Seattle, WA, USA.
Biorxiv : the Preprint Server for Biology
|October 9, 2023
Summary
This study introduces a novel multi-omic sequencing method to uncover genetic disease causes. The approach resolved a complex Mendelian condition by revealing four distinct gene disruption mechanisms from a single balanced translocation.
Area of Science:
- Genomics
- Epigenetics
- Molecular Biology
Background:
- Mendelian conditions (MCs) present diagnostic challenges due to diverse genetic variant mechanisms.
- Resolving the molecular underpinnings of MCs requires advanced multi-omic approaches.
Conclusions:
- Synchronized long-read multi-omic profiling is highly effective for resolving complex genetic phenotypes.
- This approach advances the understanding of diverse molecular mechanisms underlying Mendelian conditions.
- Facilitates diagnosis and mechanistic insight for rare and undiagnosed diseases.
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