MULTIPLEX PARALLELANALYSE AF MÅLRETTEDE GENOMISKE REGIONER TIL IKKE-INVASIV PRÆNATAL TESTNING

The invention provides methods for non-invasive prenatal testing that allow for detecting risk of chromosomal and subchromosomal abnormalities, including but not limited to aneuploidies, 5 microdeletions and microduplications, insertions, translocations, inversions and small-size mutations including...

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Bibliographic Details
Main Authors MINA, Petros, PATSALIS, Philippos, ACHILLEOS, Acilleas, TSANGARAS, Kyriakos, KOUMBARIS, George, PAPAGEORGIOU, Elisavet, A, KYPRI, Elena
Format Patent
LanguageDanish
Published 09.09.2024
Subjects
BEER
BIOCHEMISTRY
CHEMISTRY
COMPOSITIONS OR TEST PAPERS THEREFOR
CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL ORENZYMOLOGICAL PROCESSES
ENZYMOLOGY
MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEICACIDS OR MICROORGANISMS
METALLURGY
MICROBIOLOGY
MUTATION OR GENETIC ENGINEERING
PROCESSES OF PREPARING SUCH COMPOSITIONS
SPIRITS
VINEGAR
WINE
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Summary:The invention provides methods for non-invasive prenatal testing that allow for detecting risk of chromosomal and subchromosomal abnormalities, including but not limited to aneuploidies, 5 microdeletions and microduplications, insertions, translocations, inversions and small-size mutations including point mutations and mutational signatures. The methods of the invention utilize a pool of TArget Capture Sequences (TACS) to enrich for sequences of interest in a mixed sample containing both maternal and fetal DNA, followed by massive parallel sequencing and statistical analysis of the enriched population to thereby detect the risk of a genetic abnormality 10 in the fetal DNA. Kits for carrying out the methods of the invention are also provided.
Bibliography:Application Number: DK20210006148T