A method for visualizing multi-antigen binding capabilities of a set of clonotype groups. Clonotype data that identifies a clonotype group derived from an immune cell sequence dataset (e.g., single cell or spatial dataset) is obtained. A set of interactions for the clonotype group is identified. An interaction in the set of interactions is between a set of cells in the clonotype group and a plurality of antigens in which each cell of the set of cells binds to the plurality of antigens. A binding diagram is generated for the clonotype group based on the set of interactions that has been identified. The binding diagram includes a set of interaction representations that visually represents the set of interactions for the clonotype group. An interaction representation in the set of interaction representations visually relates the plurality of antigens and visually indicates a number of cells in the set of cells that bind to the plurality of antigens.

The present invention determines lymphocyte clonality by contacting a sample comprising nucleic acid molecules (1) of lymphocytes with forward and reverse primers (10, 20) and amplifying the nucleic acid molecules (1) by performing PCR pre-amplification to form barcoded PCR products (50). The barcoded PCR products (50) are amplified using adapter-specific forward and reverse primers (30, 40) in a PCR application into amplified barcoded PCR products (60), which are sequenced. The sequence reads are demultiplexed, mapped to respective TCR or BCR clonotypes and used to determine lymphocyte clonality for the sample. The forward and/or reverse primers (10, 20) are barcoded by comprising UMIs (14, 24) protected inside hairpin loops.

The present invention determines lymphocyte clonality by contacting a sample comprising nucleic acid molecules (1) of lymphocytes with forward and reverse primers (10, 20) and amplifying the nucleic acid molecules (1) by performing PCR pre-amplification to form barcoded PCR products (50). The barcoded PCR products (50) are amplified using adapter-specific forward and reverse primers (30, 40) in a PCR application into amplified barcoded PCR products (60), which are sequenced. The sequence reads are demultiplexed, mapped to respective TCR or BCR clonotypes and used to determine lymphocyte clonality for the sample. The forward and/or reverse primers (10, 20) are barcoded by comprising UMIs (14, 24) protected inside hairpin loops.

A primer composition, a kit and a method for detecting microhaplotype loci based on next generation sequencing technology and applications thereof are provided, relating to the technical field of forensic medicine, which are used to amplify 163 microhaplotype loci on human genome. The primer composition includes one or more pairs of primers with sequences as shown in SEQ ID NO: 1˜326. The primer composition involves 163 microhaplotype loci covering 22 autosomes, which can provide more new genetic information in Asian population than the system constructed in the past. In addition, compared with the next generation sequencing kit of STR loci, the kit has better mixture detection capability. Moreover, the microhaplotype genetic markers have high ancestry information content and can distinguish populations in Africa, Europe, South Asia, and East Asia. Therefore, the microhaplotype genetic markers can also be used for ancestry inference in addition to individual identification and parentage testing.

The present disclosure relates generally to compositions and methods for determining cell type based on a methylation profile of associated DNA. For cell free DNA, such determination can be used to identify disease or conditions relating to the cell type. For tumor cells, such determination is useful for identifying their primary origin.

The present disclosure relates generally to compositions and methods for determining cell type based on a methylation profile of associated DNA. For cell free DNA, such determination can be used to identify disease or conditions relating to the cell type. For tumor cells, such determination is useful for identifying their primary origin.

The present methods are exemplified by a process in which maternal blood containing fetal DNA is diluted to a nominal value of approximately 0.5 genome equivalent of DNA per reaction sample. Digital analysis is then be used to detect aneuploidy, such as the trisomy that causes Down Syndrome. Since aneuploidies do not present a mutational change in sequence, and are merely a change in the number of chromosomes, it has not been possible to detect them in a fetus without resorting to invasive techniques such as amniocentesis or chorionic villi sampling. Digital amplification allows the detection of aneuploidy using massively parallel amplification and detection methods, examining, e.g., 10,000 genome equivalents.

The present methods are exemplified by a process in which maternal blood containing fetal DNA is diluted to a nominal value of approximately 0.5 genome equivalent of DNA per reaction sample. Digital analysis is then be used to detect aneuploidy, such as the trisomy that causes Down Syndrome. Since aneuploidies do not present a mutational change in sequence, and are merely a change in the number of chromosomes, it has not been possible to detect them in a fetus without resorting to invasive techniques such as amniocentesis or chorionic villi sampling. Digital amplification allows the detection of aneuploidy using massively parallel amplification and detection methods, examining, e.g., 10,000 genome equivalents.

The present invention relates to gene expression profiles for B-cell lymphoma. More specifically, the present invention relates to gene expression profiles for diagnosis, prognosis or therapy selection for an aggressive B-cell lymphoma.

Provided herein are methods, compositions, and kits for the detection of immune cell clonotypes and immune cell analytes within a biological sample.