TARGET-ENRICHED MULTIPLEXED PARALLEL ANALYSIS FOR ASSESSMENT OF FETAL DNA SAMPLES

The invention provides methods for assessment of fetal DNA samples using target-enriched multiplexed parallel analysis. The methods of the invention utilize TArget Capture Sequences (TACS) to thereby enrich for target sequences of interest, followed by massive parallel sequencing and statistical ana...

Ausführliche Beschreibung

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Bibliographische Detailangaben
Hauptverfasser: KOUMBARIS, GEORGE, KYPRI, ELENA, PATSALIS, PHILIPPOS, IOANNIDES, MARIOS, TSANGARAS, KYRIAKOS, ACHILLEOS, ACILLEAS, MINA, PETROS
Format: Patent
Sprache:eng ; pol
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Zusammenfassung:The invention provides methods for assessment of fetal DNA samples using target-enriched multiplexed parallel analysis. The methods of the invention utilize TArget Capture Sequences (TACS) to thereby enrich for target sequences of interest, followed by massive parallel sequencing and statistical analysis of the enriched population. The methods can be used with fetal or embryonic DNA samples, for example for detection of the presence of genetic abnormalities, e.g., for purposes of IVF Pre-implantation Genetic Screening (PGS) and Diagnosis (PGD). Kits for carrying out the methods of the invention are also provided.