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Performance Evaluation of Three DNA Sample Tracking Tools in a Whole Exome Sequencing Workflow
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In-house developed 15-gene sequencing panel for acute myeloid leukemia and myelodysplasia allows robust detection of genetic defects including FLT3-ITD and CEBPA mutations
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In-house developed 15-gene sequencing panel for acute myeloid leukemia and myelodysplasia allows robust detection of genetic defects including FLT3-ITD and CEBPA mutations
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A next-generation sequencing approach targeting the highly repetitive ORF15 region of RPGR improves molecular diagnostics of X-linked retinitis pigmentosa
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Second hit landscape in BRCA-associated breast cancer
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Thorough second hit analysis in BRCA1/2 associated breast cancer
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- Journal Article
- A2
- open access
Targeted resequencing and variant validation using pxlence PCR assays
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Thorough second-hit analysis in BRCA1/2-associated breast cancer
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Flexible, scalable, and efficient targeted resequencing on a benchtop sequencer for variant detection in clinical practice
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- Journal Article
- A1
- open access
Practical tools to implement massive parallel pyrosequencing of PCR products in next generation molecular diagnostics