Related Experiment Video
Updated: Feb 2, 2026

Quantitative Comparison of cis-Regulatory Element CRE Activities in Transgenic Drosophila melanogaster
Published on: December 19, 2011
SMuRF: a novel tool to identify regulatory elements enriched for somatic point mutations.
Paul Guilhamon1, Mathieu Lupien2,3,4
1Princess Margaret Cancer Centre, The MaRS Center, University Health Network, 101 College Street, Toronto, ON, M5G 1L7, Canada.
SMuRF identifies significantly mutated regulatory elements by analyzing Single Nucleotide Variants (SNVs) within their genomic context. This tool aids in discovering novel disease-associated regulatory regions, like those found in liver cancer.
Area of Science:
- Genomics
- Cancer Research
- Bioinformatics
Background:
- Single Nucleotide Variants (SNVs) in noncoding cis-regulatory elements (CREs) can alter gene regulation and contribute to disease.
- Existing methods for identifying mutated regions overlook the specific genomic context and mutation likelihood of CREs.
Purpose of the Study:
- To introduce SMuRF (Significantly Mutated Region Finder), a novel command-line tool.
- To enable the identification of significantly mutated regions within user-defined genomic intervals and SNVs, considering CREs.
Main Methods:
- Development of the SMuRF tool for analyzing SNVs and genomic intervals.
- Application of SMuRF to publicly available datasets, including those related to liver cancer.
Main Results:
- SMuRF successfully identified 72 significantly mutated CREs in liver cancer.
- These findings include known mutated gene promoters and previously unreported regulatory regions.
Conclusions:
- SMuRF provides a straightforward method for identifying significantly mutated regulatory elements.
- The tool is open-source and accessible on GitHub, facilitating its use in research.
More Related Videos
10:41Wild-type Blocking PCR Combined with Direct Sequencing as a Highly Sensitive Method for Detection of Low-Frequency Somatic Mutations
Published on: March 29, 2017
05:51A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
Published on: June 15, 2011
Related Concept Videos
Cancers Originate from Somatic Mutations in a Single Cell
Mutations
Cis-regulatory Sequences
Elements and Compounds
Elements
Elements are classified as atomic or molecular based on the nature of their basic units. They are unique forms of matter with specific chemical and physical properties that cannot break down into smaller substances by ordinary chemical reactions. There...
Viral Mutations
Periodic Classification of the Elements