Software-Assisted Manual Review of Clinical Next-Generation Sequencing Data
| Autor: | Kaylene Ready, Kevin R. Haas, Piotr Kaleta, Laura M. Melroy, Shera Kash, Kelly A. Pierce, Dale Muzzey, Hyunseok Kang, Jillian I. Johnson |
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| Rok vydání: | 2019 |
| Předmět: |
0301 basic medicine
Sanger sequencing Computer science Computational biology Germline DNA sequencing Pathology and Forensic Medicine 03 medical and health sciences symbols.namesake 030104 developmental biology 0302 clinical medicine 030220 oncology & carcinogenesis symbols Molecular Medicine True positive rate |
| Zdroj: | The Journal of Molecular Diagnostics. 21:296-306 |
| ISSN: | 1525-1578 |
| Popis: | Clinical genomic tests increasingly use a next-generation sequencing (NGS) platform due in part to the high fidelity of variant calls, yet rare errors are still possible. In germline DNA screening, failure to correct such errors could have serious consequences for patients, who may follow an unwarranted screening or surgical management path. It has been suggested that routine orthogonal confirmation by Sanger sequencing is required to verify NGS results, especially low-confidence positives with depressed allele fraction ( 15,000 samples. Licensed reviewers manually inspected both raw and processed data at the batch, sample, and variant levels, including raw NGS read pileups. Of ambiguous variant calls with 99% (n = 1701) as true positives (enriched for long insertions or deletions and homopolymers) or true negatives (often conspicuous NGS artifacts), with the remaining |
| Databáze: | OpenAIRE |
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