WGS Data Collections: How Do Genomic Databases Transform Medicine?

As a scientific community we assumed that exome sequencing will elucidate the basis of most heritable diseases. However, it turned out it was not the case; therefore, attention has been increasingly focused on the non-coding sequences that encompass 98% of the genome and may play an important regula...

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Bibliographic Details
Published in:International journal of molecular sciences 2023-02, Vol.24 (3), p.3031
Main Authors: Król, Zbigniew J, Dobosz, Paula, Ślubowska, Antonina, Mroczek, Magdalena
Format: Article
Language:English
Subjects:
Big Data
Cancer
COVID-19
Data analysis
Data Collection
Exome Sequencing
Gene expression
Genome, Human
Genomes
genomic databases
Genomics
Humans
Infectious diseases
Inflammatory diseases
Initiatives
Medical diagnosis
Medicine
Mutation
Oncology
Pharmacogenetics
Population studies
Proteins
Review
WGS
whole-genome sequencing
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Summary:As a scientific community we assumed that exome sequencing will elucidate the basis of most heritable diseases. However, it turned out it was not the case; therefore, attention has been increasingly focused on the non-coding sequences that encompass 98% of the genome and may play an important regulatory function. The first WGS-based datasets have already been released including underrepresented populations. Although many databases contain pooled data from several cohorts, recently the importance of local databases has been highlighted. Genomic databases are not only collecting data but may also contribute to better diagnostics and therapies. They may find applications in population studies, rare diseases, oncology, pharmacogenetics, and infectious and inflammatory diseases. Further data may be analysed with Al technologies and in the context of other omics data. To exemplify their utility, we put a highlight on the Polish genome database and its practical application.
ISSN:1422-0067
1661-6596
1422-0067
DOI:10.3390/ijms24033031