LIMIT OF DETECTION BASED QUALITY CONTROL METRIC

LIMIT OF DETECTION BASED QUALITY CONTROL METRIC

Provided are methods and systems for sample quality control in CNV detection using test samples comprising cell-free nucleic acid fragments originating from a mother and a fetus. The method involves determining an exclusion region defined by at least a fetal fraction limit of detection (LOD) curve....

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Bibliographische Detailangaben
Hauptverfasser: KINNINGS, Sarah L, SKVORTSOV, Dimitri, DECIU, Cosmin, PADHUKASAHASRAM, Badri
Format: Patent
Sprache:eng ; fre ; ger
Schlagworte:
INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTEDFOR SPECIFIC APPLICATION FIELDS
PHYSICS
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Beschreibung
Zusammenfassung:Provided are methods and systems for sample quality control in CNV detection using test samples comprising cell-free nucleic acid fragments originating from a mother and a fetus. The method involves determining an exclusion region defined by at least a fetal fraction limit of detection (LOD) curve. The fetal fraction LOD curve varies with coverage values and indicates minimum values of fetal fractions needed to achieve a detection criterion given different coverages.