MOLECULAR TESTING OF MULTIPLE PREGNANCIES

    公开(公告)号:US20210095340A1

    公开(公告)日:2021-04-01

    申请号:US17122397

    申请日:2020-12-15

    Abstract: Methods, systems, and apparatus are provided for determining zygosity of a multiple-fetus pregnancy using a biological sample taken from the mother. The fetal and maternal DNA in the sample (e.g. plasma) can be analyzed for a particular chromosomal region to identify genetic differences in the fetuses. For example, a normalized parameter for the measure of a primary or secondary allele can show variances for different chromosomal regions when fetuses are dizygotic. Such a variance can be determined relative to an expected value if the fetuses were genetically identical. Statistical methods are provided for analyzing the variation of the normalized parameters to determine fetal DNA concentration and the maternal-fetal mixed genotype at various loci. Parental genotype and haplotype information can also be used to identify inheritance of different parental haplotypes to indicate genetic differences among the fetuses.

    AMPLIFICATION METHOD AND PRIMERS FOR USE THEREIN

    公开(公告)号:US20210087619A1

    公开(公告)日:2021-03-25

    申请号:US16478786

    申请日:2019-06-07

    Abstract: The present invention relates generally to an improved method of amplifying a nucleic acid region of interest and to primers for use therein. More particularly, the present invention is directed to an improved method of amplifying a nucleic acid region which has resulted from the recombination of two or more immunoglobulin or T cell receptor gene segments and primers for use therein. The method of the present invention is based on the determination that performing the amplification step at an annealing temperature determined relative to the critical annealing temperature unique to a given reaction and/or using optimised primers enables higher levels of sensitivity than have previously been achievable in the context of prior art methods of amplifying rearranged immunological or T cell receptor genes. The method of the present invention is particularly useful where the subject recombination target comprises only one N region. The provision of a highly sensitive yet simple means of detecting specific immunological and T cell receptor nucleic acid recombination events is useful in a range of applications including, but not limited to, the diagnosis and/or monitoring of clonal lymphoid cell populations or disease conditions which are characterised by specific V/D/J recombination events (such as detecting minimal residual disease in leukaemias) or the analysis or identification of immunological or T cell receptor gene regions of interest.

    Varietal counting of nucleic acids for obtaining genomic copy number information

    公开(公告)号:US10947589B2

    公开(公告)日:2021-03-16

    申请号:US15063278

    申请日:2016-03-07

    Abstract: A method for obtaining from genomic material genomic copy number information unaffected by amplification distortion, comprising obtaining segments of the genomic material, tagging the segments with substantially unique tags to generate tagged nucleic acid molecules, such that each tagged nucleic acid molecule comprises one segment of the genomic material and a tag, subjecting the tagged nucleic acid molecules to amplification by polymerase chain reaction (PCR), generating tag associated sequence reads by sequencing the product of the PCR reaction, assigning each tagged nucleic acid molecule to a location on a genome associated with the genomic material by mapping the subsequence of each tag associated sequence read corresponding to a segment of the genomic material to a location on the genome, and counting the number of tagged nucleic acid molecules having a different tag that have been assigned to the same location on the genome, thereby obtaining genomic copy number information unaffected by amplification distortion.

    METHODS AND COMPOSITIONS FOR GENERATING EPICARDIUM CELLS

    公开(公告)号:US20210062153A1

    公开(公告)日:2021-03-04

    申请号:US16900970

    申请日:2020-06-14

    Abstract: Methods and products for obtaining cardiovascular lineage cells from hPSCs. The method comprises one or more of the following steps: (a) contacting BMP component primed hPSCs with a cardiovascular mesoderm programming cocktail and culturing the contacted hPSCs for a period of time to generate a KDR+ and PDGFRalpha+ cardiovascular mesoderm cell population; (b) contacting the cardiovascular mesoderm cell population with a cardiovascular progenitor specification cocktail and culturing the contacted cardiovascular mesoderm cell population for a period of time to generate a NKX2-5+ or WT1+ cardiovascular progenitor cell population; and (c) contacting the cardiovascular progenitor cell population with a maturation cocktail and culturing the contacted cardiovascular progenitor population for a period of time to produce a cardiovascular population optionally cardiomyocyte lineage cells expressing cardiac troponin T (cTnT) and/or SIRPA and/or epicardial lineage cells expressing WT1.

    Molecular testing of multiple pregnancies

    公开(公告)号:US10900080B2

    公开(公告)日:2021-01-26

    申请号:US13405073

    申请日:2012-02-24

    Abstract: Methods, systems, and apparatus are provided for determining zygosity of a multiple-fetus pregnancy using a biological sample taken from the mother. The fetal and maternal DNA in the sample (e.g. plasma) can be analyzed for a particular chromosomal region to identify genetic differences in the fetuses. For example, a normalized parameter for the measure of a primary or secondary allele can show variances for different chromosomal regions when fetuses are dizygotic. Such a variance can be determined relative to an expected value if the fetuses were genetically identical. Statistical methods are provided for analyzing the variation of the normalized parameters to determine fetal DNA concentration and the maternal-fetal mixed genotype at various loci. Parental genotype and haplotype information can also be used to identify inheritance of different parental haplotypes to indicate genetic differences among the fetuses.

    Compositions and methods for single G-level HLA typing

    公开(公告)号:US10889860B2

    公开(公告)日:2021-01-12

    申请号:US15023552

    申请日:2013-09-24

    Abstract: Provided are methods, kits, and systems useful in the performance of analysis and reporting of highly polymorphic loci, including, in particular, the performance of analysis and reporting of HLA typing. Combining one-step sequencing and sequence-specific oligonucleotide probe hybridization, the methods, kits, and systems offer improved efficiency of HLA typing while providing detailed sequencing information. In certain embodiments the methods and systems comprise one or more software applications to facilitate data acquisition, processing, and reporting.

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