SYSTEM AND METHOD FOR DETECTION OF GENETIC ALTERATIONS

Presented are automated fluid handling systems and automated sequencing methods for re-analyzing a sample to achieve a more informative test result. In one embodiment, a method of processing a sample nucleic acid to identify a target mutation comprises performing a first sequencing reaction to deter...

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Bibliographische Detailangaben
Hauptverfasser: KINNINGS, Sarah L, DECIU, Cosmin, MEHAN, Michael
Format: Patent
Sprache:eng ; fre ; ger
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Zusammenfassung:Presented are automated fluid handling systems and automated sequencing methods for re-analyzing a sample to achieve a more informative test result. In one embodiment, a method of processing a sample nucleic acid to identify a target mutation comprises performing a first sequencing reaction to determine sample specific properties. The method further comprises determining a statistical measure to determine if a first read coverage for the target mutation from the first sequencing reaction is above or below a threshold. If the determined first read coverage does not exceed the threshold, the method further comprises determining if a sufficient amount of sample nucleic acid is available to perform a second sequencing reaction to increase the read coverage above the threshold. If a sufficient amount of sample nucleic acid is available, the method proceeds to perform re-sequencing of the sample nucleic acid to achieve a second read coverage exceeding the threshold.