Abstract: Provided are methods and systems for sample quality control in CNV detection using test samples comprising cell-free nucleic acid fragments originating from a mother and a fetus. The method involves determining an exclusion region defined by at least a fetal fraction limit of detection (LOD) curve. The fetal fraction LOD curve varies with coverage values and indicates minimum values of fetal fractions needed to achieve a detection criterion given different coverages.

Abstract: Provided herein are methods, processes and apparatuses for non-invasive assessment of genetic variations. Also provided herein are methods, processes and apparatuses for determining fetal fraction in a cell-free a sample from a pregnant subject. Also provided herein are methods, processes and apparatuses for determining fetal fraction in a cell-free a sample from a pregnant subject based on a maternal copy number variation. Also provided herein are methods, processes and apparatuses for determining fetal fraction in a cell-free a sample from a pregnant subject based on a maternal microduplication or microdeletion.

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 nucleic acid fragment length information.

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: 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 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: 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.