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Author Spotlight: Impact of Intergenic Interactions on Disease-Identifying Dark Biomarkers
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Public data sources for regulatory genomic features.

Samuele Garda1, Jana Marie Schwarz2,3, Markus Schuelke2,3

  • 1Knowledge Management in Bioinformatics, Institute for Computer Science, Humboldt-Universität zu Berlin, Unter den Linden 6, 10099 Berlin, Germany.

Medizinische Genetik : Mitteilungsblatt Des Berufsverbandes Medizinische Genetik E.V
|June 5, 2024
PubMed
Summary
This summary is machine-generated.

This review highlights key data sources for the non-coding genome and literature mining techniques. It aids in interpreting genetic variants within regulatory genomic regions.

Keywords:
databasesfunctional DNA elementsinformation extractionnon-coding genometext mining

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Area of Science:

  • Genomics
  • Bioinformatics
  • Epigenetics

Background:

  • High-throughput technologies generate vast amounts of genomic regulatory information.
  • Data from international consortia are available in online databases.
  • Disease-specific studies offer insights into gene regulation but are often in literature.

Purpose of the Study:

  • To review prominent data sources for the non-coding genome.
  • To discuss challenges and methods for literature-based information retrieval.
  • To aid in the interpretation of variants in the regulatory genome.

Main Methods:

  • Literature review of high-profile data sources.
  • Description of techniques for searching and capturing scientific literature.
  • Analysis of data accessibility and utility for variant interpretation.

Main Results:

  • Identification of key online databases for regulatory genomic information.
  • Discussion of common pitfalls in accessing and utilizing published data.
  • Presentation of strategies for effective literature mining.

Conclusions:

  • Integrating data from various sources is crucial for understanding genome regulation.
  • Effective literature search strategies enhance the interpretation of genetic variants.
  • This review provides a guide for researchers working with non-coding genome data.