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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| creator | MINA, Petros PATSALIS, Philippos ACHILLEOS, Acilleas TSANGARAS, Kyriakos KOUMBARIS, George PAPAGEORGIOU, Elisavet, A KYPRI, Elena |
| description | 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. |
| format | Patent |
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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. 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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. 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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.</abstract><oa>free_for_read</oa></addata></record> |
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| 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 |
| title | MULTIPLEX PARALLELANALYSE AF MÅLRETTEDE GENOMISKE REGIONER TIL IKKE-INVASIV PRÆNATAL TESTNING |
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