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Breakthrough Sequencing Tech Links Hidden DNA to Disease

Breakthrough Sequencing Tech Links Hidden DNA to Disease

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.

High-quality laboratory image showcasing researchers working with single-cell RNA sequencing tools, representative of the new SDR-seq technology for analyzing genetic variants.

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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Conceptual scientific visualization illustrating single-cell analysis and gene variant mapping, with no overlay text and high clarity.

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).

High-resolution image depicting combined DNA and RNA sequencing analysis in cells, symbolizing integrative single-cell genomics research.

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

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.

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.

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?

What are the potential applications of SDR-seq in cancer research?

What are the potential applications of SDR-seq in cancer research?

How does SDR-seq handle the complexity of non-coding regions?

How does SDR-seq handle the complexity of non-coding regions?

How does SDR-seq handle the complexity of non-coding regions?

What are the ethical considerations of using SDR-seq in genetic studies?

What are the ethical considerations of using SDR-seq in genetic studies?

What are the ethical considerations of using SDR-seq in genetic studies?

How does SDR-seq contribute to the understanding of genetic diseases?

How does SDR-seq contribute to the understanding of genetic diseases?

How does SDR-seq contribute to the understanding of genetic diseases?

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