The present application mainly relates to specific methods for inferring activity of a cellular signaling pathway in tissue and/or cells of a medical subject based at least on expression levels of one or more target gene(s) of the cellular signaling pathway measured in an extracted sample of the tissue and/or cells of the medical subject, an apparatus comprising a digital compressor configured to perform such methods and a non-transitory storage medium storing instructions that are executable by a digital processing device to perform such methods.

The present invention relates to methods for diagnosing a disease by determining via multiplex fluorescence in situ hybridization (FISH) whether or not mRNA species and/or at least one miRNA species of disease-associated biomarkers ar present in a sample obtained from a subject, and by determining by multiplex sequencing whether or not said mRNA species of disease-associated biomarkers and/or said miRNA species of disease-associated biomarkers of step (a) are present in said sample. The present invention also relates to kits for performing the methods for diagnosis as described and provided herein as well as use of such kits for performing the methods for diagnosis as described and provided herein.

The present invention relates to the field of molecular biology detection, more particularly to a method for fluorescent quantitative PCR. The method includes: 1) mixing an upstream and downstream primer pair, a fluorescent probe, and a PCR amplification reagent; and 2) carrying out the fluorescent quantitative PCR, where the fluorescent probe has two quenching groups, in which a first quenching group is located at a 3′ end and a second quenching group is labeled on a T base and is 10-15 nt apart from the first quenching group. Using the method for fluorescent quantitative PCR, background signals in the fluorescent quantitative PCR can be reduced; furthermore, the sensitivity of PCR can be improved, the occurrence of false negatives in detection can be reduced, and the amplification efficiency of the fluorescent quantitative PCR can also be improved.

The present invention is directed to a method for detecting somatic mutation in cell free total nucleic acid (cfTNA) in a liquid biological sample by a personalized approach with high sensitivity and specificity. The present invention relates to multiplex amplification of target loci with primers selected from a primer bank for cancer liquid biopsies, including but not limited to minimal residual disease (MRD) monitoring, recurrence monitoring, therapy monitoring, early detecting or screening cancer. Somatic, clonal variants of a patient are first identified by sequencing of the primary tumor and the matched normal sample in the patient. Then customized panel of primer pairs for the patient is selected from a primer bank. Using the selected panel of primer pairs, multiplex polymerase chain reaction and next-generation sequencing are performed on the cfTNA sample from this patient to detect the presence of tumor DNA in the sample.

Nucleic acid oligonucleotide sequences are disclosed which include amplification oligomers and probe oligomers which are useful for detecting multiple types of human papillomaviruses (HPV) associated with cervical cancer. Methods for detecting multiple HPV types in biological specimens by amplifying HPV nucleic acid sequences in vitro and detecting the amplified products are disclosed.

Provided herein are methods and systems for cell-free DNA extraction from liquid biological samples. The methods can be employed for determination of fetal DNA fraction and non-invasive prenatal screening of fetal aneuploidies and analyses of other types of cell-free DNA.

The present disclosure provides methods, devices and systems for detecting a presence of a nucleic acid molecule having a nucleic acid sequence. Detection of cyclic single base extension can be used to detect a nucleic acid molecule hybridized to a probe and detect a presence of a nucleic acid. The methods disclosed herein can detect a nucleic acid molecule present in a nucleic acid sample at low concentrations and in the presence of background nucleic acids having high sequence similarity.

The present disclosure relates in some aspects to methods and compositions for analysis of a target nucleic acid, such as in situ detection of a region of interest in a polynucleotide in a tissue sample. In some embodiments, provided herein are templated ligation probes (e.g., RNA-templated ligation probes) and selector probes for generation of a circularized ligated probe comprising an insertion sequence of a selector probe, wherein the circularized ligated probe is amplified in a rolling circle amplification reaction to generate a product that is detected in the sample.

It is intended to provide a kit or a device for the detection of breast cancer and a method for detecting breast cancer. The present invention provides a kit or a device for the detection of breast cancer, comprising nucleic acid(s) capable of specifically binding to a miRNA in a sample of a subject, and a method for detecting breast cancer, comprising measuring the miRNA in vitro.

The present invention provides methods and compositions that are useful for assessing gene expression for tumor immune response profile of a sample. In particular, a target-specific primer panel is provided that allows for selective amplification of immune response target sequences in a sample. In one aspect, the invention relates to target-specific primers useful for selective amplification of one or more target sequences associated with immune response. In some aspects, amplified target sequences obtained using the disclosed methods, and compositions can be used in various processes including nucleic acid sequencing and used to detect the presence of genetic variants and/or expression levels of one or more targeted sequences associated with immune response.