| Autor: |
Lele Li, Xia Tian, Vaughan Woodzell, Richard A. Gibbs, Bo Yuan, Eric Venner |
| Jazyk: |
angličtina |
| Rok vydání: |
2024 |
| Předmět: |
|
| Zdroj: |
Genetics in Medicine Open, Vol 2, Iss , Pp 101841- (2024) |
| Druh dokumentu: |
article |
| ISSN: |
2949-7744 |
| DOI: |
10.1016/j.gimo.2024.101841 |
| Popis: |
Purpose: Variant interpretation, guided by American College of Medical Genetics and Genomics guidelines, can inform clinical decision-making. However, interpretations may change over time for a variety of reasons. Periodic reanalysis of previous variant interpretations is important to ensure that reported genetic findings remain accurate according to current knowledge. Methods: We performed automated filtering by comparing ClinVar variants available in August 2020 with those from August 2021 to screen for potential reanalysis candidates from 3 projects. These variants were subsequently interpreted based on the American College of Medical Genetics and Genomics/Association for Molecular Pathology variant interpretation guideline or ClinGen revised gene-specific guidelines if applicable. Results: Our method annotated 241 unique variants requiring reanalysis, from 3 projects containing 3,832,210 previously interpreted variants, including those filtered automatically. Among these 241 variants, 43 variants changed interpretation, including 55.81% (N = 24) with upgraded and 44.19% (N = 19) with downgraded classifications. An efficiency study showed that our strategy increased the reanalysis efficiency and saved reviewing time. Conclusion: We demonstrated an effective high-throughput method, initiating from external data updates, to achieve variant reanalysis in a clinical laboratory. This filtering method reduced the number of variants that need to be reanalyzed, screened potential variants, and saved time and cost for clinical laboratories. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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