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METHODS FOR DETECTING MUTATION LOAD FROM A TUMOR SAMPLE
A targeted panel with low sample input requirements from a tumor only sample may be processed to estimate mutation load in a tumor sample. The method may include: detecting variants in nucleic acid sequence reads corresponding to targeted locations in the tumor sample genome; annotating detected variants with an annotation information from a population database; filtering the detected variants, wherein the filtering retains the somatic variants and removes germline variants; calculating an initial TMB; and applying a calibration to the initial TMB level to produce a final TMB level for the mutation load of the tumor sample genome. The filtering may also include retaining nonsynonymous SNVs and indels for the analysis.
METHODS FOR DETECTING MUTATION LOAD FROM A TUMOR SAMPLE
A targeted panel with low sample input requirements from a tumor only sample may be processed to estimate mutation load in a tumor sample. The method may include: detecting variants in nucleic acid sequence reads corresponding to targeted locations in the tumor sample genome; annotating detected variants with an annotation information from a population database; filtering the detected variants, wherein the filtering retains the somatic variants and removes germline variants; calculating an initial TMB; and applying a calibration to the initial TMB level to produce a final TMB level for the mutation load of the tumor sample genome. The filtering may also include retaining nonsynonymous SNVs and indels for the analysis.
METHODS FOR DETECTING MUTATION LOAD FROM A TUMOR SAMPLE
VERFAHREN ZUR DETEKTION EINER MUTATIONSLAST AUS EINER TUMORPROBE
PROCÉDÉS DE DÉTECTION D'UNE CHARGE DE MUTATION DANS UN ÉCHANTILLON TUMORAL
CHAUDHARY RUCHI (author) / HYLAND FIONA (author)
2021-07-07
Patent
Electronic Resource
English
IPC:
G16B
Method and device for evaluating tumor mutation load detection performance of NGS kit
| European Patent Office | 2023