The invention provides methods of using low coverage sequencing to assess the relative fraction of tumor versus normal DNA in a sample, and to assess copy number alterations present in the sample.

The invention provides methods of using low coverage sequencing to assess the relative fraction of tumor versus normal DNA in a sample, and to assess copy number alterations present in the sample.

Comparison of common sequencing reads from sequencing based on partition-based barcoding can be used to improve sequencing results. Increased loading of barcodes per partition can also improve sequencing results.

Comparison of common sequencing reads from sequencing based on partition-based barcoding can be used to improve sequencing results. Increased loading of barcodes per partition can also improve sequencing results.

Disclosed herein include methods, compositions, and kits suitable for use in the measurement of the states of living cells across time. There are provided, in some embodiments, RNA exporter proteins comprising an RNA-binding domain, a membrane-binding domain, and an interaction domain capable of nucleating self-assembly. Disclosed herein include polynucleotides encoding reporter RNA molecule(s). In some embodiments, a plurality of RNA exporter proteins are capable of self-assembling into lipid-enveloped nanoparticles (LNs) secreted from a reporter cell in which the RNA exporter proteins are expressed, thereby generating a population of LNs comprising exported reporter RNA molecule(s).

Disclosed herein include methods, compositions, and kits suitable for use in the measurement of the states of living cells across time. There are provided, in some embodiments, RNA exporter proteins comprising an RNA-binding domain, a membrane-binding domain, and an interaction domain capable of nucleating self-assembly. Disclosed herein include polynucleotides encoding reporter RNA molecule(s). In some embodiments, a plurality of RNA exporter proteins are capable of self-assembling into lipid-enveloped nanoparticles (LNs) secreted from a reporter cell in which the RNA exporter proteins are expressed, thereby generating a population of LNs comprising exported reporter RNA molecule(s).

The present invention relates to a method for prenatal diagnosis using digital PCR, and more particularly to a method for providing information for diagnosis of chromosomal aneuploidy in a fetus, comprising: (a) extracting DNAs from pregnant woman's blood; (b) classifying the DNAs according to size to obtain DNAs having a size of 1,000 bp or less; (c) performing digital PCR using the obtained DNAs of step (b), for a control gene located on a chromosome not associated with chromosomal aneuploidy and a target gene located on a chromosome associated with chromosomal aneuploidy; (d) calculating a ratio of a quantitative digital PCR value of the target gene to a quantitative digital PCR value of the control gene; and (e) determining that when the ratio calculated in step (d) is 0.70-1.14, a chromosome number of the fetus is normal.

The present invention relates to a method for prenatal diagnosis using digital PCR, and more particularly to a method for providing information for diagnosis of chromosomal aneuploidy in a fetus, comprising: (a) extracting DNAs from pregnant woman's blood; (b) classifying the DNAs according to size to obtain DNAs having a size of 1,000 bp or less; (c) performing digital PCR using the obtained DNAs of step (b), for a control gene located on a chromosome not associated with chromosomal aneuploidy and a target gene located on a chromosome associated with chromosomal aneuploidy; (d) calculating a ratio of a quantitative digital PCR value of the target gene to a quantitative digital PCR value of the control gene; and (e) determining that when the ratio calculated in step (d) is 0.70-1.14, a chromosome number of the fetus is normal.

The present invention relates to a method for providing an analytical signal for determination of the presence of a target nucleic acid sequence in a sample. The present invention can contribute to dramatic improvement in methods for detecting target nucleic acid sequences using different detection temperatures and reference values. The present invention allows detection of a target nucleic acid sequence in a more accurate, effective and reproducible manner, by removing or adjusting a signal region that may affect the detection of a target nucleic acid sequence.

The present invention relates to a method for providing an analytical signal for determination of the presence of a target nucleic acid sequence in a sample. The present invention can contribute to dramatic improvement in methods for detecting target nucleic acid sequences using different detection temperatures and reference values. The present invention allows detection of a target nucleic acid sequence in a more accurate, effective and reproducible manner, by removing or adjusting a signal region that may affect the detection of a target nucleic acid sequence.