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Scientists at EMBL have introduced SDR-seq, a technology that simultaneously sequences DNA and RNA from the same single cell, bridging non-coding genetic variants to disease mechanisms in unprecedented detail.

October 18, 2025

Source:
EMBL
New Tool Decodes Genetic Risk
Scientists have unveiled SDR-seq, an innovative method that simultaneously sequences DNA and RNA from the same individual cell. This advance, developed by researchers at EMBL, bridges a crucial gap in our ability to pinpoint how genetic variations—including those in non-coding regions—affect gene expression and contribute to disease.
Non-coding Variants in Focus
Traditional single-cell methods often overlook non-coding DNA, missing where more than 95% of disease-associated variants reside. With SDR-seq, researchers can now track the impact of these previously hidden variants at single-cell resolution (Bioengineer.org).
How SDR-seq Works
Uses oil-water emulsion droplets to isolate individual cells.
Barcodes DNA and RNA from each cell, linking genetic code and gene activity directly.
Processes thousands of cells per experiment, enabling large-scale studies (EMBL News).
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Source:
http://Bioengineer.org
Unlocking Disease Mechanisms
SDR-seq provides unprecedented resolution for linking variants in both coding and non-coding regions—and their effects on gene expression. This is a leap forward in functional genomics, helping researchers understand not just which mutations are present, but how they drive disease.
Key Findings
Thousands of single cells analyzed for both DNA variants and gene activity.
Small, non-coding changes found to strongly influence gene regulation and cellular behavior (Nature Methods).
Demonstrated on stem cells and cancer cells to map mutation burden to changes in gene networks (PubMed).
Computational Advances
SDR-seq leverages advanced barcoding and bioinformatics pipelines to ensure high sensitivity and precision at scale (ScienceDaily).
Read More
Source:
Technology Networks
Implications and Future Research
According to EMBL’s Dominik Lindenhofer, SDR-seq enables analysis of complex cellular samples regardless of variant location. Senior author Lars Steinmetz adds: "If we can discern how variants regulate disease, it means we have a better opportunity to intervene and treat it."
Applications Ahead
Precision diagnostics based on genotype-to-phenotype mapping.
New insights into oncology, developmental biology, and immunology.
Setting a new standard for single-cell multiomics.
With potential impacts in medicine and biology, this technique is set to drive research and improved diagnostics. For more about SDR-seq protocols, visit protocols.io.
Source Materials
How does SDR-seq compare to other single-cell sequencing methods?
SDR-seq is unique as it sequences both DNA and RNA from the same single cell, enabling direct linkage of genetic variants—especially in non-coding regions—to gene expression, while previous methods typically analyzed only one component or missed non-coding regions.
What are the potential applications of SDR-seq in cancer research?
How does SDR-seq handle the complexity of non-coding regions?
What are the ethical considerations of using SDR-seq in genetic studies?
How does SDR-seq contribute to the understanding of genetic diseases?
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