Implementation of whole-exome sequencing for pharmacogenomics profiling and exploring its potential clinical utilities
Whole-exome sequencing (WES) is widely used in clinical settings; however, the exploration of its use in pharmacogenomic analysis remains limited. Our study compared the variant callings for 28 core absorption, distribution, metabolism and elimination genes by WES and array-based technology using clinical trials samples. The results revealed that WES had a positive predictive value of 0.71-0.92 and a sensitivity of single-nucleotide variants between 0.68 and 0.95, compared with array-based technology, for the variants in the commonly targeted regions of the WES and PhamacoScan™ assay. Besides the common variants detected by both assays, WES identified 200-300 exclusive variants per sample, totalling 55 annotated exclusive variants, including important modulators of metabolism such as rs2032582 (ABCB1) and rs72547527 (SULT1A1). This study highlights the potential clinical advantages of using WES to identify a wider range of genetic variations and enabling precision medicine.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2024 |
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| Erschienen: |
2024 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:25 |
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| Enthalten in: |
Pharmacogenomics - 25(2024), 4 vom: 21. März, Seite 197-206 |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Wang, Danyi [VerfasserIn] |
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| Links: |
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| Themen: |
ADME genes |
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| Anmerkungen: |
Date Completed 27.03.2024 Date Revised 27.03.2024 published: Print-Electronic Citation Status MEDLINE |
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| doi: |
10.2217/pgs-2023-0243 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
NLM370010515 |
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| 520 | |a Whole-exome sequencing (WES) is widely used in clinical settings; however, the exploration of its use in pharmacogenomic analysis remains limited. Our study compared the variant callings for 28 core absorption, distribution, metabolism and elimination genes by WES and array-based technology using clinical trials samples. The results revealed that WES had a positive predictive value of 0.71-0.92 and a sensitivity of single-nucleotide variants between 0.68 and 0.95, compared with array-based technology, for the variants in the commonly targeted regions of the WES and PhamacoScan™ assay. Besides the common variants detected by both assays, WES identified 200-300 exclusive variants per sample, totalling 55 annotated exclusive variants, including important modulators of metabolism such as rs2032582 (ABCB1) and rs72547527 (SULT1A1). This study highlights the potential clinical advantages of using WES to identify a wider range of genetic variations and enabling precision medicine | ||
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| 700 | 1 | |a Coenen-Stass, Anna |e verfasserin |4 aut | |
| 700 | 1 | |a Grombacher, Thomas |e verfasserin |4 aut | |
| 700 | 1 | |a Dong, Jennifer Q |e verfasserin |4 aut | |
| 700 | 1 | |a Scheuenpflug, Juergen |e verfasserin |4 aut | |
| 700 | 1 | |a Locatelli, Giuseppe |e verfasserin |4 aut | |
| 700 | 1 | |a Feng, Zheng |e verfasserin |4 aut | |
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