Methods and systems for variant detection

In one exemplary embodiment, a method for detecting variants in electropherogram data is provided. The method includes receiving electropherogram data from an instrument and analyzing the electropherogram data to identify mixed bases in the electropherogram data. The method further includes identify...

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Bibliographische Detailangaben
Hauptverfasser:	Denny, David A, Woo, David, Chang, Sylvia, Aliminati, Manjula, Samsani, Siva Kumar, Schneider, Stephanie J, Lim, Yoke Peng
Format:	Patent
Sprache:	eng
Schlagworte:	INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTEDFOR SPECIFIC APPLICATION FIELDS INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIRCHEMICAL OR PHYSICAL PROPERTIES MEASURING PHYSICS TESTING
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Beschreibung
Zusammenfassung:	In one exemplary embodiment, a method for detecting variants in electropherogram data is provided. The method includes receiving electropherogram data from an instrument and analyzing the electropherogram data to identify mixed bases in the electropherogram data. The method further includes identifying features within the electropherogram data indicative of errors and validating the identified mixed bases. Then the method includes determining variants in the electropherogram data based on the validated mixed bases.