Described herein are methods relating to the diagnosis, prognosis, and treatment of airway dysfunction, e.g., bronchiectasis by detecting gene expression in a sample obtained from a subject. Exemplary samples include a bronchial brushing, nasal brushing, sputum, or peripheral blood sample.

The invention provides methods, systems, and computer readable medium for detecting ploidy of chromosome segments or entire chromosomes, for detecting single nucleotide variants and for detecting both ploidy of chromosome segments and single nucleotide variants. In some aspects, the invention provides methods, systems, and computer readable medium for detecting cancer or a chromosomal abnormality in a gestating fetus.

The invention provides improved methods, compositions, and kits for detecting ploidy of chromosome regions, e.g. for detecting cancer or a chromosomal abnormality in a gestating fetus. The methods can utilize a set of more than 200 SNPs that are found within haploblocks and can include analyzing a series of target chromosomal regions related to cancer or a chromosomal abnormality in a gestating fetus. Finally the method may use knowledge about chromosome crossover locations or a best fit algorithm for the analysis. The compositions may comprise more than 200 primers located within haplotype blocks known to show CNV.

Provided herein are methods of identifying a marker for a biological interaction, the method comprising: quantifying genome-wide RNA expression in cells; exposing the cells to a perturbagen for a period of time sufficient to induce the biological interaction in the cells, wherein the induced biological interaction comprises inducing changes in RNA expression in the cells that are exposed to the perturbagen; quantifying genome-wide nascent RNA expression in the cells that were exposed to the perturbagen; calculating a difference in the genome-wide nascent RNA expression between (i) the genome-wide RNA expression in the cells absent the perturbagen and (ii) the genome-wide nascent RNA expression in the cells that were exposed to the perturbagen; and identifying the marker using the calculated difference in the genome-wide nascent RNA expression.

Described herein is a method of sequencing a template that comprises a direct repeat, comprising: (a) in the same reaction, hybridizing a primer to a first site that is upstream of the first repeat sequence and hybridizing a primer to a second site that is upstream of the second repeat sequence, wherein the first and second sites are: (i) upstream of the first and second repeat sequences, respectively, and (ii) equidistant from the first and second repeat sequences; and (b) subjecting the hybridization product of (a) to a sequencing-by-synthesis sequencing reaction to produce a sequence read that comprises a combination of the first and second repeat sequences.

Described herein is a method of sequencing a template that comprises a direct repeat, comprising: (a) in the same reaction, hybridizing a primer to a first site that is upstream of the first repeat sequence and hybridizing a primer to a second site that is upstream of the second repeat sequence, wherein the first and second sites are: (i) upstream of the first and second repeat sequences, respectively, and (ii) equidistant from the first and second repeat sequences; and (b) subjecting the hybridization product of (a) to a sequencing-by-synthesis sequencing reaction to produce a sequence read that comprises a combination of the first and second repeat sequences.

The invention provides methods, systems, and computer readable medium for detecting ploidy of chromosome segments or entire chromosomes, for detecting single nucleotide variants and for detecting both ploidy of chromosome segments and single nucleotide variants. In some aspects, the invention provides methods, systems, and computer readable medium for detecting cancer or a chromosomal abnormality in a gestating fetus.

The methods and assays described herein relate to detection, diagnosis, and treatment of lung cancer, e.g., by detecting the level of expression of certain miRNAs described herein and/or by therapeutically increasing the level of those miRNAs.

Devices, systems, and methods for automatic genotyping obtain high-resolution melt data from a test sample defining a melting curve for a target nucleic acid in the test sample; obtain high-resolution melt data from a control sample defining a melting curve for a wild type of the target nucleic acid in the control sample; calculate melting curve derivatives of the melting curves for the test sample and the control sample, respectively, wherein each melting curve derivative represents a negative derivative of a fluorescence emitted from a nucleic acid sample as a function of temperature affecting nucleic acid denaturation; calculate parameters defining differences between features of the test sample and the control sample melting curve derivatives; and assign a genotype to the test sample based on a comparison of the calculated parameters to predetermined thresholds and boundaries defining genotypes.

Described herein is a method of sequencing a template that comprises a direct repeat, comprising: (a) in the same reaction, hybridizing a primer to a first site that is upstream of the first repeat sequence and hybridizing a primer to a second site that is upstream of the second repeat sequence, wherein the first and second sites are: (i) upstream of the first and second repeat sequences, respectively, and (ii) equidistant from the first and second repeat sequences; and (b) subjecting the hybridization product of (a) to a sequencing-by-synthesis sequencing reaction to produce a sequence read that comprises a combination of the first and second repeat sequences.