The present invention provides a method for assessing embryotoxicity of a chemical comprising: (1) a first step of measuring the expression level of one or more genes selected from among genes each comprising any of the nucleotide sequences of SEQ ID NOs: 1 to 78 and 101 to 230 and orthologous genes thereof in a sample from a non-human mammal or mammalian cell which has come into contact with a test chemical; and (2) a second step of comparing the measured value of the expression level of the gene in the sample obtained in the first step with a control value of the expression level of the gene and based on the difference assessing the level of the embryotoxicity of the test chemical in the sample; and so on.

The present invention relates to a method for identifying a specific type and/or state of a mammalian cell in a sample obtained from a mammal, comprising a) analyzing the relative amount of accessible chromatin in regions that are specific for a cell-type and/or cellular state in the genome of said cell, b) comparing said relative amount of accessible chromatin said in regions with the relative amount of accessible chromatin in regions in the genome of said cell that are unspecific for a cell-type and/or cellular state, and c) deducing the specific type and/or state of said mammalian cell in said sample based on said comparison. Preferably, said identifying further comprises a relative quantification of said specific cell type and/or state based on said comparison. The method can further comprise a diagnosis of a predisposition to a disease or a disease based on said identification. Kits and certain markers in regions of accessible chromatin in the genome are described, too.

The present invention relates to a method for identifying a specific type and/or state of a mammalian cell in a sample obtained from a mammal, comprising a) analyzing the relative amount of accessible chromatin in regions that are specific for a cell-type and/or cellular state in the genome of said cell, b) comparing said relative amount of accessible chromatin said in regions with the relative amount of accessible chromatin in regions in the genome of said cell that are unspecific for a cell-type and/or cellular state, and c) deducing the specific type and/or state of said mammalian cell in said sample based on said comparison. Preferably, said identifying further comprises a relative quantification of said specific cell type and/or state based on said comparison. The method can further comprise a diagnosis of a predisposition to a disease or a disease based on said identification. Kits and certain markers in regions of accessible chromatin in the genome are described, too.

Systems and methods are used to provide an online tool for clinical laboratories to monitor Next-Generation Sequencing (NGS) workflow using Quality Control (QC) material that can be used for multiple assays. The tool utilizes a highly multiplexed QC with NGS assays that detect somatic mutations. The control provides a common QC material that can be used across laboratories with different NGS instrument platforms, assays and bioinformatics pipelines to test precision and detect analytical deviations that may arise from reagent and instrument variation.

Systems and methods are used to provide an online tool for clinical laboratories to monitor Next-Generation Sequencing (NGS) workflow using Quality Control (QC) material that can be used for multiple assays. The tool utilizes a highly multiplexed QC with NGS assays that detect somatic mutations. The control provides a common QC material that can be used across laboratories with different NGS instrument platforms, assays and bioinformatics pipelines to test precision and detect analytical deviations that may arise from reagent and instrument variation.

The present invention relates to a method for quantitatively determining living and dead cells in a biological sample. The method according to the present invention is based on the determination of the amount of DNA in the sample with the aid of a DNA amplification reaction which does not impair the membrane integrity of living cells.

The present invention relates to a method for quantitatively determining living and dead cells in a biological sample. The method according to the present invention is based on the determination of the amount of DNA in the sample with the aid of a DNA amplification reaction which does not impair the membrane integrity of living cells.

The present invention relates to the field of transcriptomics and provides a method for the controlled identification and/or quantification of transcript variants in samples, comprising providing a reference set of artificial polynucleic acid molecules simulating transcript variants and adding said reference set as external control to samples comprising transcript variants. The present invention further provides such a reference set, as well as a method to produce such a reference set.

The present invention relates to the field of transcriptomics and provides a method for the controlled identification and/or quantification of transcript variants in samples, comprising providing a reference set of artificial polynucleic acid molecules simulating transcript variants and adding said reference set as external control to samples comprising transcript variants. The present invention further provides such a reference set, as well as a method to produce such a reference set.

The present specification relates to methods, compositions, and kits for determining the presence of the number of copies of a gene. The present disclosure provides methods and compositions to determine zygosity in transgenic plants, number of transgenes in a plant or animal, karyotyping, determine CNV in human and animal samples, diagnose and detect diseases and conditions that are characterized by having variations in the number of copies of one or more genes.