Abstract: Single-cell analysis of a population of cells reveals cellular genotypes of individual cells. Accordingly, methods for performing single-cell analyses for a plurality of cells to determine cellular genotypes of individual cells are described. Generally, the single-cell Also described are methods of analysis involving targeted DNA-seq to generate sequence reads derived from genomic DNA that are used to determine the cell genotype. Methods described also include determining a cell genotype, particularly in distinguishing a genotype amongst a heterogenous population of cells, through analysis of different classes of cell mutations such as short-sequence mutations (e.g., SNVs) in combination with structural variants (e.g., CNVs). Reagents, materials, and kits for performing the same are also described.

Abstract: Single-cell analysis of a population of cells reveals cellular genotypes (e.g., single nucleotide variants and copy number variations) and phenotypes (e.g., protein expression) of individual cells. In one scenario, individual cells can be classified according to their respective genotypes and phenotypes. In one scenario, genotypes and phenotypes of all cells in the population are informative for identifying subpopulations of cells, thereby revealing intra-population heterogeneity. The identification of subpopulations of cells is informative for improving the understanding of cellular biology, especially in the context of diseases such as cancer, and is further informative for the better design of diagnostics and therapies.

Abstract: The disclosure relates to method, apparatus and system to detect flowrate in a microfluidic system. An exemplary method to detect flowrate of a low-flow constituent in a fluidic circuit includes the steps of: (1) pneumatically driving a first fluid into the fluidic circuit, the first fluid including a first reagent, a first detection component and the constituent; (2) defining a sampling area in the fluidic circuit and exposing a microchannel in the sampling area to a wavelength configured to excite the first detection component to thereby provide a detection emission from the first detection component of the first reagent; (3) filtering the detection emission from the first reagent at an optical filer to substantially isolate a detection emission frequency; (4) determining flowrate of the constituent through the microchannel as a function of the isolated detection emission frequency.