Abstract: The invention relates to prenatal detection methods using non-invasive techniques. In particular, it relates to prenatal diagnosis of a fetal chromosomal aneuploidy by detecting fetal and maternal nucleic acids in a maternal biological sample. More particularly, the invention applies multiplex PCR to amplify selected fractions of the respective chromosomes of maternal and fetal chromosomes. Respective amounts of suspected aneuploid chromosomal regions and reference chromosomes are determined from massive sequencing analysis followed by a statistical analysis to detect a particular aneuploidy.

Abstract: A computer-implemented method and system for ranking information in an information system comprising linked objects is disclosed. The computer-implemented method comprises computing a prior ranking of all objects in the linked database, obtaining at least one source object, determining the probability of reaching an object taking a step in random walk with restart in the at least one source object(s) based on the adjacency between objects in the information system, and determining a ranking of objects in the information system using the determined probability and applying a correction factor inversely proportional with the computed prior ranking of the objects. An output based on the determined ranking is provided. The present invention also relates to a computer-implemented method and system for providing probable functional relations between at least one source object and a target object, as well as computer-related products therefor.

Abstract: We previously identified 18q21.33-q23 as a candidate region for bipolar (BP) disorder and constructed a yeast artificial chromosome (YAC) contig map. In a next step we isolated and analysed all CAG/CTG repeats from this region and excluded them from involvement in BP disorder. Here, in the process of identifying all CCG/CGG repeats from the region, we found a cluster of 6 genes encoding for serpins. For one of them, CAP2 located at 18q21.3, a mutation analysis was performed. Analysis of the thus identified single nucleotide polymorphisms (six in total) revealed a statistically significant association of SNP c.942G>T with BP disorder. It is thus an object of the present invention to provide a method of diagnosing BP or susceptibility to BP in an individual which method comprises determining, in a sample from the individual, the single nucleotide polymorphism in the CAP2 gene of the individual, and determining the status of the individual by reference to polymorphism in the CAP2 gene.