Invention Grant
- Patent Title: Target-enriched multiplexed parallel analysis for assessment of fetal DNA samples
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Application No.: US16625437Application Date: 2018-07-06
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Publication No.: US11649500B2Publication Date: 2023-05-16
- Inventor: George Koumbaris , Marios Ioannides , Elena Kypri , Acilleas Achilleos , Petros Mina , Kyriakos Tsangaras , Philippos Patsalis
- Applicant: NIPD GENETICS PUBLIC COMPANY LIMITED
- Applicant Address: CY Nicosia
- Assignee: NIPD GENETICS PUBLIC COMPANY LIMITED
- Current Assignee: NIPD GENETICS PUBLIC COMPANY LIMITED
- Current Assignee Address: CY Nicosia
- Agency: Ballard Spahr LLP
- International Application: PCT/EP2018/068414 2018.07.06
- International Announcement: WO2019/008153A 2019.01.10
- Date entered country: 2019-12-20
- Main IPC: C12Q1/6883
- IPC: C12Q1/6883 ; C12Q1/6806

Abstract:
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 the 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.
Public/Granted literature
- US20210147936A1 TARGET-ENRICHED MULTIPLEXED PARALLEL ANALYSIS FOR ASSESSMENT OF FETAL DNA SAMPLES Public/Granted day:2021-05-20
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