Abstract: A highly accurate non-invasive prenatal testing methodology that allows accurate fetal rhesus determination and fetal DNA fraction measurement in a single assay is provided. The disclosed testing may be administered as early as at week 10 of pregnancy and can be conveniently combined with prenatal genetic disease testing and detection.

Abstract: Aspects of the present disclosure includes methods to quantify methylation in a DNA sample, where the method includes treating the sample to encode the presence or absence of DNA methylation, adding to the sample a set of synthetic molecules e.g., quality control template (QCT) molecules), generating a co-amplification mixture, sequencing the co-amplification mixture, determining a number of methylated molecules in the sample based on the number of methylated reads from the sample and a number of reads from the set of synthetic molecules.

Abstract: Embodiments of a method and/or system for facilitating characterization of one or more conditions can include: generating a set of target-associated molecules; generating a reference-associated set of molecule; facilitating generation of at least one spike-in mixture; determining one or more abundance metrics based on an analysis of the at least one spike-in mixture; and facilitating the characterization of the one or more conditions based on the one or more abundance metrics.

Abstract: Embodiments of a method and/or system for facilitating characterization of one or more conditions can include: generating a set of target-associated molecules; generating a reference-associated set of molecule; facilitating generation of at least one spike-in mixture; determining one or more abundance metrics based on an analysis of the at least one spike-in mixture; and facilitating the characterization of the one or more conditions based on the one or more abundance metrics.

Abstract: Embodiments of a method and/or system can include generating a set of quality control template (QCT) molecules; determining a set of QCT sequence read clusters based on the set of QCT molecules, such as based on variation regions of the set of QCT molecules; and based on the set of QCT sequence read clusters, determining a sequencing-related parameter, such as a contamination parameter and/or molecule count parameter, associated with the at least one of sequencing library preparation and sequencing.

Abstract: Embodiments of a method and/or system can include generating a co-amplified mixture based on co-amplifying a set of nucleic acid molecules (e.g., cell-free nucleic acids, etc.) from the biological sample, wherein the set of nucleic acid molecules includes a genomic region of interest associated with the medical condition; and a homologous native genomic region with partial sequence similarity to the genomic region of interest; sequencing the co-amplified mixture; determining an abundance metric for the genomic region of interest and an abundance metric for the homologous native genomic region; and/or facilitating the characterization of the medical condition based on the abundance metric for the genomic region of interest and the abundance metric for the homologous native genomic region.

Abstract: Embodiments of a method and/or system can include generating a set of target-associated molecules (e.g., spike-in molecules) associated with one or more biological targets; generating one or more spike-in mixtures based on processing the set of target-associated molecules with one or more samples including the one or more biological targets; performing one or more Sanger sequencing operations on the one or more spike-in mixtures; determining one or more abundance metrics based on chromatogram-related outputs from the one or more Sanger sequencing operations; and/or facilitating characterization of one or more medical conditions based on the one or more abundance metrics.

Abstract: Embodiments of a method for accurate determination of biological target abundance can include generating a first set of molecules associated with a target sequence, where the first set of molecules includes a first set of dilution tags associated with a relative concentration profile; generating a second set of molecules including a second set of dilution tags associated with the first set of dilution tags; generating a dilution tagged mixture; amplifying the subsets of dilution tagged genetic targets using the second set of molecules; generating a modified dilution tagged mixture from the amplified subsets; determining, for the biological sample, a count of the distinct molecules including the target sequence; and/or determining, for the biological sample, an assessment of relative concentrations distinct species, such as over a vast dynamic range.