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To learn more about the function of a gene, researchers can observe what happens when the gene is inactivated or “knocked out,” by creating genetically engineered knockout animals. Knockout mice have been particularly useful as models for human diseases such as cancer, Parkinson’s disease, and diabetes.
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Protein WISDOM: A Workbench for In silico De novo Design of BioMolecules
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SuPreMo: a computational tool for streamlining in silico perturbation using sequence-based predictive models.

Ketrin Gjoni1,2, Katherine S Pollard1,2,3

  • 1Institute of Data Science and Biotechnology, Gladstone Institutes, 1650 Owens Street, San Francisco, CA 94158, United States.

Bioinformatics (Oxford, England)
|May 25, 2024
PubMed
Summary
This summary is machine-generated.

Sequence Mutator for Predictive Models (SuPreMo) is a new tool for in silico mutagenesis experiments. It helps prioritize pathogenic variants and discover functional sequences using machine learning models.

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Area of Science:

  • Genomics
  • Bioinformatics
  • Machine Learning

Background:

  • Sequence-based machine learning models require effective sequence manipulation tools.
  • Existing genome editing tools have limitations with structural variants and identifying causative sequence changes.

Purpose of the Study:

  • To introduce Sequence Mutator for Predictive Models (SuPreMo), a tool designed to overcome limitations in current in silico mutagenesis methods.
  • To enable efficient manipulation and evaluation of genome sequences for machine learning applications.

Main Methods:

  • SuPreMo is a Python-based tool that generates reference and perturbed sequences.
  • It supports in silico mutagenesis experiments and provides 3D genome disruption scores.
  • The tool is designed for scalability and ease of use, runnable with a single line of code.

Main Results:

  • SuPreMo facilitates the use of machine learning models with edited genome sequences.
  • It aids in prioritizing pathogenic variants.
  • The tool assists in the discovery of novel functional sequences.

Conclusions:

  • SuPreMo addresses key bottlenecks in sequence manipulation for predictive modeling.
  • It offers a comprehensive and scalable solution for in silico mutagenesis.
  • The tool enhances the application of machine learning in genomic research.