Implementing Whole Genome Sequencing (WGS) in Clinical Practice: Advantages, Challenges, and Future Perspectives
The integration of whole genome sequencing (WGS) into all aspects of modern medicine represents the next step in the evolution of healthcare. Using this technology, scientists and physicians can observe the entire human genome comprehensively, generating a plethora of new sequencing data. Modern com...
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| Format: | Article |
| Language: | English |
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MDPI AG
2024-03-01
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| Series: | Cells |
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| Online Access: | https://www.mdpi.com/2073-4409/13/6/504 |
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| author | Petar Brlek Luka Bulić Matea Bračić Petar Projić Vedrana Škaro Nidhi Shah Parth Shah Dragan Primorac |
| author_facet | Petar Brlek Luka Bulić Matea Bračić Petar Projić Vedrana Škaro Nidhi Shah Parth Shah Dragan Primorac |
| author_sort | Petar Brlek |
| collection | DOAJ |
| description | The integration of whole genome sequencing (WGS) into all aspects of modern medicine represents the next step in the evolution of healthcare. Using this technology, scientists and physicians can observe the entire human genome comprehensively, generating a plethora of new sequencing data. Modern computational analysis entails advanced algorithms for variant detection, as well as complex models for classification. Data science and machine learning play a crucial role in the processing and interpretation of results, using enormous databases and statistics to discover new and support current genotype–phenotype correlations. In clinical practice, this technology has greatly enabled the development of personalized medicine, approaching each patient individually and in accordance with their genetic and biochemical profile. The most propulsive areas include rare disease genomics, oncogenomics, pharmacogenomics, neonatal screening, and infectious disease genomics. Another crucial application of WGS lies in the field of multi-omics, working towards the complete integration of human biomolecular data. Further technological development of sequencing technologies has led to the birth of third and fourth-generation sequencing, which include long-read sequencing, single-cell genomics, and nanopore sequencing. These technologies, alongside their continued implementation into medical research and practice, show great promise for the future of the field of medicine. |
| first_indexed | 2024-04-24T18:27:09Z |
| format | Article |
| id | doaj.art-a8285cdfccbd49caadde7557f6b368aa |
| institution | Directory Open Access Journal |
| issn | 2073-4409 |
| language | English |
| last_indexed | 2024-04-24T18:27:09Z |
| publishDate | 2024-03-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Cells |
| spelling | doaj.art-a8285cdfccbd49caadde7557f6b368aa2024-03-27T13:30:36ZengMDPI AGCells2073-44092024-03-0113650410.3390/cells13060504Implementing Whole Genome Sequencing (WGS) in Clinical Practice: Advantages, Challenges, and Future PerspectivesPetar Brlek0Luka Bulić1Matea Bračić2Petar Projić3Vedrana Škaro4Nidhi Shah5Parth Shah6Dragan Primorac7St. Catherine Specialty Hospital, 10000 Zagreb, CroatiaSt. Catherine Specialty Hospital, 10000 Zagreb, CroatiaSt. Catherine Specialty Hospital, 10000 Zagreb, CroatiaInternational Center for Applied Biological Research, 10000 Zagreb, CroatiaGreyledge Europe Ltd., 10000 Zagreb, CroatiaDartmouth Hitchcock Medical Center, Lebannon, NH 03766, USADartmouth Hitchcock Medical Center, Lebannon, NH 03766, USASt. Catherine Specialty Hospital, 10000 Zagreb, CroatiaThe integration of whole genome sequencing (WGS) into all aspects of modern medicine represents the next step in the evolution of healthcare. Using this technology, scientists and physicians can observe the entire human genome comprehensively, generating a plethora of new sequencing data. Modern computational analysis entails advanced algorithms for variant detection, as well as complex models for classification. Data science and machine learning play a crucial role in the processing and interpretation of results, using enormous databases and statistics to discover new and support current genotype–phenotype correlations. In clinical practice, this technology has greatly enabled the development of personalized medicine, approaching each patient individually and in accordance with their genetic and biochemical profile. The most propulsive areas include rare disease genomics, oncogenomics, pharmacogenomics, neonatal screening, and infectious disease genomics. Another crucial application of WGS lies in the field of multi-omics, working towards the complete integration of human biomolecular data. Further technological development of sequencing technologies has led to the birth of third and fourth-generation sequencing, which include long-read sequencing, single-cell genomics, and nanopore sequencing. These technologies, alongside their continued implementation into medical research and practice, show great promise for the future of the field of medicine.https://www.mdpi.com/2073-4409/13/6/504whole genome sequencingnext-generation sequencingpharmacogenomicscancer genomicsthird-generation sequencingnanopore sequencing |
| spellingShingle | Petar Brlek Luka Bulić Matea Bračić Petar Projić Vedrana Škaro Nidhi Shah Parth Shah Dragan Primorac Implementing Whole Genome Sequencing (WGS) in Clinical Practice: Advantages, Challenges, and Future Perspectives Cells whole genome sequencing next-generation sequencing pharmacogenomics cancer genomics third-generation sequencing nanopore sequencing |
| title | Implementing Whole Genome Sequencing (WGS) in Clinical Practice: Advantages, Challenges, and Future Perspectives |
| title_full | Implementing Whole Genome Sequencing (WGS) in Clinical Practice: Advantages, Challenges, and Future Perspectives |
| title_fullStr | Implementing Whole Genome Sequencing (WGS) in Clinical Practice: Advantages, Challenges, and Future Perspectives |
| title_full_unstemmed | Implementing Whole Genome Sequencing (WGS) in Clinical Practice: Advantages, Challenges, and Future Perspectives |
| title_short | Implementing Whole Genome Sequencing (WGS) in Clinical Practice: Advantages, Challenges, and Future Perspectives |
| title_sort | implementing whole genome sequencing wgs in clinical practice advantages challenges and future perspectives |
| topic | whole genome sequencing next-generation sequencing pharmacogenomics cancer genomics third-generation sequencing nanopore sequencing |
| url | https://www.mdpi.com/2073-4409/13/6/504 |
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