Sanger Sequencing for Variant Validation

Variants classified as uncertain by manual curation and pathogenic, likely pathogenic, or VUS based on clinical interpretation were validated by Sanger sequencing. Sanger sequencing was performed using the ABI PRISM BigDye Terminator Cycle Sequencing v.2.0 Ready Reaction kit and ABI PRISM 3730 DNA analyzer (Applied Biosystems) as previously described [26 (link)]. Blood samples were used for Sanger sequencing. All blood samples matched the corresponding tumor samples.

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Lebedeva A., Shaykhutdinova Y., Seriak D., Ignatova E., Rozhavskaya E., Vardhan D., Manicka S., Sharova M., Grigoreva T., Baranova A., Mileyko V, & Ivanov M. (2022). Incidental germline findings during molecular profiling of tumor tissues for precision oncology: molecular survey and methodological obstacles. Journal of Translational Medicine, 20, 29.

Publication 2022

ABI PRISM BigDye Terminator Cycle Sequencing v.2.0 Ready Reaction kit ABI PRISM 3730 DNA analyzer

Abi 2 Blood Pathogenic Prism Tumor

Corresponding Organization : Sechenov University

Other organizations : Salem Hospital, Ministry of Health of the Russian Federation, Research Centre for Medical Genetics, George Mason University, Moscow Institute of Physics and Technology

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Variable analysis

independent variables

Variants classified as uncertain by manual curation and pathogenic, likely pathogenic, or VUS based on clinical interpretation

dependent variables

Validation of variants by Sanger sequencing

control variables

Blood samples used for Sanger sequencing matched the corresponding tumor samples

controls

Positive control: Not explicitly mentioned
Negative control: Not explicitly mentioned

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