Unlocking the Potential of machine learning for genomics research

Adarsh Vulli
DataDreamers
Published in
4 min readMay 16, 2023

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(Part-1)

Genomics is the field of biology that studies an organism's complete set of genetic material (DNA), including all of its genes and non-coding sequences. With the rapid development of AI/Machine learning techniques, there has been a surge in the application of machine learning in genomic research.

AI and ML have great potential as the world evolves around genomics. Some of the critical areas include but are not limited to.

  1. Variant analysis
  2. Drug Discovery
  3. Personalized medicine

Variant analysis:

With the advent of data available, machine learning can identify genetic variants that are associated with specific diseases.

Machine learning can help researchers and development teams develop new diagnostic tests and treatments for those diseases.

https://www.thepharmaletter.com/article/understanding-the-ai-enabled-drug-discovery-landscape

Drug discovery:

Geometric drug discovery involves using computational methods to predict the structure and interactions of drug compounds with target proteins.

Machine learning is used to identify new drug candidates and to predict the toxicity of potential drug compounds, reducing the time and costs associated with drug development.

Additionally, machine learning can help design protein-based drugs by predicting their three-dimensional structure and identifying targetable regions, accelerating drug development for various diseases.

Personalized medicine:

Personalized genomics is the study of an individual’s genetic makeup, and machine learning can play a crucial role in predicting disease risk, personalizing treatment plans, and interpreting genetic data.

By analyzing large datasets, machine learning algorithms can identify patterns associated with developing certain diseases and predict drug responses or side effects based on genetic markers.

So obtained info can be used to provide personalized risk assessments and develop targeted prevention and early detection strategies. Additionally, machine learning can simplify the complex process of interpreting genetic data and provide customized recommendations.

Genome Editing and CRISPR-Cas9

CRISPR-Cas9 (Clustered Regularly Interspaced Short Palindromic Repeats)gene editing technology has benefited from machine learning techniques.

https://www.youtube.com/watch?v=qc6xgb4VXl0

Ml methods like ANN or SVM, to name a few, help in predicting the efficiency and specificity of the CRISPR-Cas9 guide RNA designs. Machine Learning can also aid in enhancing the safety and efficacy of this powerful tool.

Challenges:

The applications of AI/ML in genomics have both potential advantages and, at the same time, have a few key challenges that need to be addressed and to name few:

  1. Data Quality and Quantity:
    ML algorithms are data-dependent and have high volumes of high-quality data.
    Obtaining the same would be difficult because of the variations in data formats and limited sample sizes.
  2. Ethical and Privacy Concerns:
    Genomic data contains sensitive and personalized data that concerns patient privacy and security.
    Safeguarding patient privacy while enabling data sharing for research purposes is a complex challenge that needs to be addressed through robust data protection measures.
  3. Bias and fairness:
    In genomics, where disparities related to race, ethnicity, and gender exist, biased AI/ML models can amplify these biases.
  4. Generalization and reproducibility:
    Models developed for genomics often need help with generalization beyond the datasets they were trained on. Genomic data, generally, are more heterogenous, which the models fail to capture.

Conclusion:

As machine learning continues to evolve, it promises to revolutionize genomics research, leading to groundbreaking discoveries and transforming the future of healthcare. According to a report, The global AI in the genomics market would reach up to $9.8 Billion, Globally by 2031 at 40.6% CAGR. This clearly states a significant market growth in genomic research and clinical applications.

Thanks for reading!…

Watch this space for more additions to the list of topics. Feel free to shoot me any questions in the comments below or connect with me on LinkedIn.

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