The present disclosure relates to compositions and methods for generating capture probes on a substrate for identifying the location of analytes in a biological sample.

The present disclosure relates to compositions and methods for generating capture probes on a substrate for identifying the location of analytes in a biological sample.

The present invention relates to detecting aberrant expression of genes which may be associated with a disease or disorder using haplotype phasing. In particular, the invention relates to a method of obtaining an indication of dysregulation between the expression levels of at least two alleles of a gene in a target eukaryotic cell. The method comprises the steps of for a plurality of genes from one or more target eukaryotic cells, (a) obtaining pre-mRNAs of at least two alleles of the same gene; and (b) determining the ratios (Ri,j) between amounts of the pre-mRNAs of one or more pairs of alleles (i,j) of the same gene.

The present invention relates to detecting aberrant expression of genes which may be associated with a disease or disorder using haplotype phasing. In particular, the invention relates to a method of obtaining an indication of dysregulation between the expression levels of at least two alleles of a gene in a target eukaryotic cell. The method comprises the steps of for a plurality of genes from one or more target eukaryotic cells, (a) obtaining pre-mRNAs of at least two alleles of the same gene; and (b) determining the ratios (Ri,j) between amounts of the pre-mRNAs of one or more pairs of alleles (i,j) of the same gene.

The present disclosure relates to methods for detecting unique genetic signatures derived from markers such as, for example, mutations, somatic or germ-line, in nucleic acids obtained from biological samples. The sensitivity of the methods provides for detection of mutations associated with a disease, e.g., cancer mutations, or with inherited disease, e.g., an autosomal recessive disease, in a noninvasive manner at ultra-low proportions of sequences carrying mutations to sequences carrying normal, e.g., non-cancer sequences, or a reference sequence, e.g., a human reference genome.

The present disclosure relates to methods for detecting unique genetic signatures derived from markers such as, for example, mutations, somatic or germ-line, in nucleic acids obtained from biological samples. The sensitivity of the methods provides for detection of mutations associated with a disease, e.g., cancer mutations, or with inherited disease, e.g., an autosomal recessive disease, in a noninvasive manner at ultra-low proportions of sequences carrying mutations to sequences carrying normal, e.g., non-cancer sequences, or a reference sequence, e.g., a human reference genome.

The invention relates to methods of detecting a genetic variation in a genetic sample from a subject using labeled probes and counting the number of labels in the probes.

The invention relates to methods of detecting a genetic variation in a genetic sample from a subject using labeled probes and counting the number of labels in the probes.

The present invention provides novel Epstein Barr virus (EBV) variants including those associated with increased risk for developing nasopharyngeal carcinoma (NPC).

The present invention provides detection systems and methods for detection of loci and genomic regions in a sample, including mixed samples, using hybridization to an array.