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A Rigorous Interlaboratory Examination of the Need to Confirm Next-Generation Sequencing–Detected Variants with an Orthogonal Method in Clinical Genetic Testing

机译：严格的互流检查需要确认在临床遗传检测中具有正交方法的下一代测序检测的变体

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Stephen E. Lincoln; Rebecca Truty; Chiao-Feng Lin; Justin M. Zook; Joshua Paul; Vincent H. Ramey; Marc Salit; Heidi L. Rehm; Robert L. Nussbaum; Matthew S. Lebo;
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1. A Rigorous Interlaboratory Examination of the Need to Confirm Next-Generation Sequencing-Detected Variants with an Orthogonal Method in Clinical Genetic Testing [J] . Lincoln Stephen E., Truty Rebecca, Lin Chiao-Feng, The Journal of molecular diagnostics: JMD . 2019,第2期

机译：严格的互流检查需要在临床遗传测试中确认具有正交方法的下一代测序检测的变体
2. A Rigorous Interlaboratory Examination of the Need to Confirm NGS-Detected Variants by an Orthogonal Method in Clinical Genetic Testing [J] . Lincoln S. E., Zook J., Lin C., The Journal of molecular diagnostics: JMD . 2018,第6期

机译：严格的互责任检查需要通过临床遗传检测中的正交方法确认NGS检测的变体
3. Proficiency Testing of Standardized Samples Shows High Interlaboratory Agreement for Clinical Next-Generation Sequencing-Based Hematologic Malignancy Assays With Survey Material-Specific Differences in Variant Frequencies [J] . Keegan Alissa, Bridge Julia A., Lindeman Neal I, Archives of pathology & laboratory medicine . 2020,第8期

机译：标准化样品的能力测试显示了具有临床下一代测序的血液学恶性病测定的高调性协议，具有调查材料的变体频率特异性差异
4. 21.1 A Fully Integrated Genetic Variant Discovery SoC for Next-Generation Sequencing [C] . Yi-Chung Wu, Yen-Lung Chen, Chung-Hsuan Yang, IEEE International Solid- State Circuits Conference . 2020

机译：21.1用于下一代测序的完全集成的遗传变异发现SoC
5. Statistical methods for genome variant calling and population genetic inference from next-generation sequencing data. [D] . Ma, Xin. 2011

机译：从下一代测序数据进行基因组变异调用和群体遗传推断的统计方法。
6. Clinical Validity of Next-Generation Sequencing Multi-Gene Panel Testing for Detecting Pathogenic Variants in Patients With Hereditary Breast-Ovarian Cancer Syndrome [O] . Jaeeun Yoo, Gun Dong Lee, Jee Hae Kim, 2020

机译：下一代测序多基因组检测在遗传性乳腺癌-卵巢癌综合征患者中检测致病变异的临床有效性
7. Proficiency Testing of Standardized Samples Shows High Interlaboratory Agreement for Clinical Next-Generation Sequencing–Based Hematologic Malignancy Assays With Survey Material–Specific Differences in Variant Frequencies [O] . Alissa Keegan, Julia A. Bridge, Neal I. Lindeman, 2020

机译：标准化样品的能力测试表明，具有临床下一代测序的血液学恶性病测定的高调性协议，具有调查材料的变体频率特异性差异

A Rigorous Interlaboratory Examination of the Need to Confirm Next-Generation Sequencing–Detected Variants with an Orthogonal Method in Clinical Genetic Testing

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