WGS Data Collections: How Do Genomic Databases Transform Medicine? Article Swipe

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Zbigniew Król , Paula Dobosz , Antonina Ślubowska , Magdalena Mroczek ·

YOU? · · 2023 · Open Access · · DOI: https://doi.org/10.3390/ijms24033031

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.

Related Topics

Exome Sequencing

Computational Biology

Data Science

Personalized Medicine

Concepts

Exome Personalized medicine Context (archaeology) Computational biology Data science Precision medicine Genome Genomics Exome sequencing Biology Bioinformatics Database Computer science Genetics Gene Mutation Paleontology

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Type: review
Language: en
Landing Page: https://doi.org/10.3390/ijms24033031
PDF: https://www.mdpi.com/1422-0067/24/3/3031/pdf?version=1675732747
OA Status: gold
Cited By: 5
References: 132
Related Works: 10
OpenAlex ID: https://openalex.org/W4319318653

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OpenAlex ID: https://openalex.org/W4319318653

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DOI: https://doi.org/10.3390/ijms24033031

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Title: WGS Data Collections: How Do Genomic Databases Transform Medicine?

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Type: review

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Language: en

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Publication year: 2023

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Publication date: 2023-02-03

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Authors: Zbigniew Król, Paula Dobosz, Antonina Ślubowska, Magdalena Mroczek

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Landing page: https://doi.org/10.3390/ijms24033031

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Concepts: Exome, Personalized medicine, Context (archaeology), Computational biology, Data science, Precision medicine, Genome, Genomics, Exome sequencing, Biology, Bioinformatics, Database, Computer science, Genetics, Gene, Mutation, Paleontology

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Cited by: 5

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Citations by year (recent): 2025: 2, 2024: 2, 2023: 1

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References (count): 132

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