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...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
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MDPI AG
2023-02-01
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| Series: | International Journal of Molecular Sciences |
| Subjects: | |
| Online Access: | https://www.mdpi.com/1422-0067/24/3/3031 |
| _version_ | 1797624132655906816 |
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| author | Zbigniew J. Król Paula Dobosz Antonina Ślubowska Magdalena Mroczek |
| author_facet | Zbigniew J. Król Paula Dobosz Antonina Ślubowska Magdalena Mroczek |
| author_sort | Zbigniew J. Król |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-03-11T09:38:46Z |
| format | Article |
| id | doaj.art-40975c1027cc4e949d4bb292029882f4 |
| institution | Directory Open Access Journal |
| issn | 1661-6596 1422-0067 |
| language | English |
| last_indexed | 2024-03-11T09:38:46Z |
| publishDate | 2023-02-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | International Journal of Molecular Sciences |
| spelling | doaj.art-40975c1027cc4e949d4bb292029882f42023-11-16T17:06:00ZengMDPI AGInternational Journal of Molecular Sciences1661-65961422-00672023-02-01243303110.3390/ijms24033031WGS Data Collections: How Do Genomic Databases Transform Medicine?Zbigniew J. Król0Paula Dobosz1Antonina Ślubowska2Magdalena Mroczek3Central Clinical Hospital of Ministry of the Interior and Administration in Warsaw, 02-507 Warsaw, PolandCentral Clinical Hospital of Ministry of the Interior and Administration in Warsaw, 02-507 Warsaw, PolandDepartment of Biostatistics and Research Methodology, Faculty of Medicine, Collegium Medicum, Cardinal Stefan Wyszyński University in Warsaw, Wóycickiego 1/3, 01-938 Warsaw, PolandCenter for Cardiovascular Genetics and Gene Diagnostics, Foundation for People with Rare Diseases, Wagistrasse 25, 8952 CH-Schlieren-Zurich, SwitzerlandAs 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.https://www.mdpi.com/1422-0067/24/3/3031COVID-19databasegenomic databaseswhole-genome sequencingWGS |
| spellingShingle | Zbigniew J. Król Paula Dobosz Antonina Ślubowska Magdalena Mroczek WGS Data Collections: How Do Genomic Databases Transform Medicine? International Journal of Molecular Sciences COVID-19 database genomic databases whole-genome sequencing WGS |
| title | WGS Data Collections: How Do Genomic Databases Transform Medicine? |
| title_full | WGS Data Collections: How Do Genomic Databases Transform Medicine? |
| title_fullStr | WGS Data Collections: How Do Genomic Databases Transform Medicine? |
| title_full_unstemmed | WGS Data Collections: How Do Genomic Databases Transform Medicine? |
| title_short | WGS Data Collections: How Do Genomic Databases Transform Medicine? |
| title_sort | wgs data collections how do genomic databases transform medicine |
| topic | COVID-19 database genomic databases whole-genome sequencing WGS |
| url | https://www.mdpi.com/1422-0067/24/3/3031 |
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