http://rdf.ncbi.nlm.nih.gov/pubchem/patent/EP-2496713-A1

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filingDate 2010-11-05-04:00^^<http://www.w3.org/2001/XMLSchema#date>
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publicationDate 2012-09-12-04:00^^<http://www.w3.org/2001/XMLSchema#date>
publicationNumber EP-2496713-A1
titleOfInvention Size-based genomic analysis
abstract Systems, methods, and apparatuses for performing a prenatal diagnosis of a sequence imbalance are provided. A shift (e.g. to a smaller size distribution) can signify an imbalance in certain circumstances. For example, a size distribution of fragments of nucleic acids from an at-risk chromosome can be used to determine a fetal chromosomal aneuploidy. A size ranking of different chromosomes can be used to determine changes of a rank of an at- risk chromosome from an expected ranking. Also, a difference between a statistical size value for one chromosome can be compared to a statistical size value of another chromosome to identify a significant shift in size. A genotype and haplotype of the fetus may also be determined using a size distribution to determine whether a sequence imbalance occurs in a maternal sample relative to a genotypes or haplotype of the mother, thereby providing a genotype or haplotype of the fetus.
priorityDate 2009-11-06-04:00^^<http://www.w3.org/2001/XMLSchema#date>
type http://data.epo.org/linked-data/def/patent/Publication

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Total number of triples: 26.