Abstract: Techniques are described for identifying a genetic variant in a test sample by comparing sequences reads obtained from the test sample to unique k-mers that are representative of a target genomic region. In one particular aspect, a method is described that includes generating a dictionary of a target genomic region having a set of unique k-mers by: accessing a sequence of the target genomic region, determining a set of k-mers for the target genomic region, comparing the set of k-mers for the target genomic region with one or more sets of k-mers for non-target genomic regions, and selecting the unique k-mers that do not appear in the one or more sets of k-mers for non-target genomic regions. The dictionary can then be used to identify a genetic variant in a test sample by comparing sequences reads obtained from the test sample to the unique k-mers in the dictionary.

Abstract: Methods for non-invasive assessment of genetic variations that make use of nucleic acid fragment length information, in particular length of fragments in circulating cell-free nucleic acids and compares the number of counts from fragments with different length.

Abstract: Provided herein are methods, processes and apparatuses for non-invasive assessment of genetic variations.

Abstract: The presently described techniques provide for the use of low-pass sequencing data in the calculation of a polygenic risk score for an individual. As discussed herein, the low-pass sequencing data may be acquired in a context where DNA (e.g., cfDNA) from more than one source is present in the sample and the portion of the DNA attributable to a secondary source may bias the PRS calculation for the primary individual of interest. In one implementation fragment length may be used to derive a function (e.g., a linear function) relating fetal fraction to the respective PRS estimate at each fetal fraction. This function may then be used to calculate the PRS in the absence of a fetal contribution (i.e., at a 0% fetal fraction).

Abstract: Provided herein are methods, processes and apparatuses for non-invasive assessment of genetic variations.

Abstract: Provided herein are methods, processes and apparatuses for non-invasive assessment of genetic variations.

Abstract: Provided herein are methods, processes and apparatuses for non-invasive assessment of genetic variations.

Abstract: Provided herein are methods, processes and apparatuses for non-invasive assessment of genetic variations.

Abstract: Provided herein are methods, processes and apparatuses for non-invasive assessment of genetic variations that make use of decision analyses. The decision analyses sometimes include segmentation analyses and/or odds ratio analyses.

Abstract: Technology provided herein relates in part to methods, processes and apparatuses for non-invasive assessment of genetic variations.

Abstract: Provided herein are methods, processes and apparatuses for non-invasive assessment of genetic variations.

Abstract: Provided herein are methods for determining fetal ploidy according to nucleic acid sequence reads. Nucleic acid sequence reads may be obtained from test sample nucleic acid comprising circulating cell-free nucleic acid from the blood of a pregnant female bearing a fetus. Fetal ploidy may be determined according to genomic section levels and a fraction of fetal nucleic acid in a test sample.

Abstract: Provided herein are methods, processes and apparatuses for non-invasive assessment of genetic variations that make use of decision analyses. The decision analyses sometimes include segmentation analyses and/or odds ratio analyses.

Abstract: Provided herein are methods, processes and apparatuses for non-invasive assessment of genetic variations.

Abstract: Technology provided herein relates in part to methods, processes, compositions and apparatuses for analyzing nucleic acid.

Abstract: Technology provided herein relates in part to methods, processes and apparatuses for non-invasive assessment of genetic variations. In particular the invention relates to methods and kits for detecting aneuploidy of a fetal chromosome by determining the amounts of differentially methylated regions in each of chromosomes 13, 18 and 21 in circulating cell-free nucleic acid from a human pregnant female.

Abstract: Presented are automated fluid handling systems and automated sequencing methods for re-analyzing a sample to achieve a more informative test result. In one embodiment, a method of processing a sample nucleic acid to identify a target mutation comprises performing a first sequencing reaction to determine sample specific properties. The method further comprises determining a statistical measure to determine if a first read coverage for the target mutation from the first sequencing reaction is above or below a threshold. If the determined first read coverage does not exceed the threshold, the method further comprises determining if a sufficient amount of sample nucleic acid is available to perform a second sequencing reaction to increase the read coverage above the threshold. If a sufficient amount of sample nucleic acid is available, the method proceeds to perform re-sequencing of the sample nucleic acid to achieve a second read coverage exceeding the threshold.

Abstract: Technology provided herein relates in part to methods, processes, compositions and apparatuses for analyzing nucleic acid.

Abstract: Provided are methods for identifying the presence or absence of a chromosome abnormality by which a cell-free sample nucleic acid from a subject is analyzed. In certain embodiments, provided are methods for identifying the presence or absence of a fetal chromosome abnormality in a nucleic acid from cell-free maternal blood.

Abstract: Technology provided herein relates in part to non-invasive classification of one or more genetic copy number alterations (CNAs) for a test sample. Certain methods include sampling a quantification of sequence reads from parts of a genome, generating a confidence determination, and using the confidence determination to enhance classification. Technology provided herein is useful for classifying a genetic CNA for a sample as part of non-invasive pre-natal (NIPT) testing and oncology testing, for example.