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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
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ENLIGHTENMENT: A Scalable Annotated Database of Genomics and NGS-Based Nucleotide Level Profiles
IEEE/ACM Transactions on Computational Biology and Bioinformatics
|December 6, 2023
Summary
Researchers developed the Enlightenment database to integrate human genome data from multiple sources. This platform aids in identifying cancer biomarkers and understanding drug responses for cancer research.
Area of Science:
- Genomics
- Bioinformatics
- Cancer Research
Background:
- Advances in sequencing technologies have led to a surge in available whole-genome data.
- Understanding the human genome's role in cancer requires aggregating and standardizing this large dataset.
Purpose of the Study:
- To create a unified, scalable platform for integrating and analyzing human genomic data.
- To facilitate the identification of cancer-specific and pharmacogenetic biomarkers and their association with drug responses.
Main Methods:
- Implementation of the Enlightenment database, integrating data from eight public databases and H. sapiens DNA sequencing profiles.
- Annotation of genomic data for cancer biomarkers, pharmacogenetic biomarkers, drug response variability, and novel copy number variants.
- Deployment of the database on HBase distributed over a Hadoop cluster for scalability and processing of Next-Generation Sequencing (NGS) data.
Main Results:
- A centralized platform providing access to integrated genomic data and annotated results.
- Identification of cancer-specific biomarkers, pharmacogenetic biomarkers, and novel copy number variants.
- A scalable infrastructure capable of handling large-scale genomic datasets and integrating other omics data.
Conclusions:
- The Enlightenment database provides a valuable resource for cancer research by integrating and analyzing vast amounts of genomic data.
- The scalable HBase and Hadoop-based architecture addresses the challenges of storing and processing NGS data.
- This platform has the potential to accelerate cancer research and guide towards its eradication by enabling further data integration.
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