Abstract:
This disclosure relates to methods and kits for karyotyping in which chromosomes are interrogated by amplifying loci that are not within copy number variable regions thereof.
Abstract:
Nucleic acid sequence mapping/assembly methods are disclosed. The methods initially map only a contiguous portion of each read to a reference sequence and then extends the mapping of the read at both ends of the mapped contiguous portion until the entire read is mapped (aligned). In various embodiments, a mapping score can be calculated for the read alignment using a scoring function, score (i, j) = M+mx, where M can be the number of matches in the extended alignment, x can be the number of mismatches in the alignment, and m can be a negative penalty for each mismatch. The mapping score can be utilized to rank or choose the best alignment for each read.
Abstract:
A method for determining a cycle threshold for a PCR amplification curve is provided. The method includes receiving a data set for a plurality of biological samples for a PCR amplification reaction. The data set includes a plurality of amplification curves, each amplification curve associated with a biological sample of the plurality of biological samples. The method further includes performing a nonlinear optimization comprising a fit of each amplification curve to a complementary modeled amplification curve to determine a best-fit set of parameters for a modeled efficiency curve and associated amplification curve. The modeled amplification curve is based on a modeled efficiency curve. The method includes determining a cycle threshold value for each biological sample based on a complementary relationship of the modeled efficiency curve to the modeled amplification curve. In an embodiment, the nonlinear optimization is a constrained nonlinear optimization.
Abstract:
Methods, compositions, systems, apparatuses and kits comprising modified proteins, particularly modified nucleic acid-binding proteins with altered buffering properties are provided. For example, in some embodiments, methods of forming modified proteins including one or more amino acid modifications to achieve desired pKa values are described. Furthermore, the invention provides methods for using such modified proteins in ion-producing reactions, such as ion-based nucleic acid sequencing reactions.
Abstract:
A packaging system for transporting vials containing biological samples may comprise a first tray defining at least one first tray cavity; and a second tray defining at least one second tray cavity and configured to mate with the first tray. The packaging system may further comprise at least one first tray cavity and at least one second tray cavity, wherein the at least one first tray cavity and the at least one second tray cavity are configured to securely hold respective vials for transport, and to restrain caps on the respective vials during transport, wherein the at least one first tray cavity and the at least one second tray cavity oppose each other when the first tray and the second tray are mated together. The packaging system may also be configured to permit barcode scanning of vials held within the first tray cavity and the second tray ca
Abstract:
Disclosed are systems and methods for polynucleotide sequencing where detection and correction of base calling errors can be achieved without reliance on a reference sequence. In certain embodiments, redundant information, which may be provided by additional labels, can be introduced during measurement so as to allow such detection of errors. Such redundant information and measurements can be facilitated by encoding of nucleotide sequence being measured. Various examples of such encoding, redundancy introduction, and decoding are provided.
Abstract:
The present disclosure generally provides compositions, methods and kits for reducing unwanted primer interactions (e.g., primer dimer structure formation). More specifically, the disclosure provides for compositions, methods and kits for reducing non-specific side products and/or interactions resulting from primer dimer formation prior to or during amplification of target nucleic acids.
Abstract:
Reference features are updated based on a previous scan during each mass spectrometry scan of a sample. Reference features with reference feature confidence values are generated from a plurality of initial scans. For each subsequent scan of a sample, sample features and sample feature confidence values are calculated. The reference features and sample features are aligned to determine common features. Constants are determined for an equation of mass of the mass spectrometer using confidence weighted regression of the common features. The constants and the equation of mass are used to calculate new mass values for the sample features. The reference features are updated using the sample features and the reference feature confidence values are recalculated in order to maintain the accuracy of reference features for calibration.
Abstract:
The methods and compositions provided herein relate to the discovery of 13 STR are markers found on the human Y chromosome with surprisingly high mutation rates when compared with 173 other Y-STR markers known today, including those that are in common use in forensics. In addition to theoretical expectations based on elevated mutation rates, these 13 rapidly-mutating (RM) Y-STRs proved to be suitable for differentiating between closely related males, as well as between more distant male relatives and much more so than the most-commonly used Y-STRs in forensics. Our new set of RM-Y-STRs is expected to overcome the current dilemma of Y-chromosome analysis in forensic applications from current male lineage identification towards male individual identification in many cases, due to their extraordinary mutation properties as discovered here. Embodiments of the invention include methods for allelic determination of rapidly-mutating Y-STR markers, amplification primers for the analysis of rapidly-mutating Y-STR markers, allelic ladders for analysis of rapidly-mutating Y-STR markers, and kits for the analysis of rapidly-mutating Y-STR markers.
Abstract:
The present invention provides dual labeled protein standards useful for the simultaneous determination of the molecular weight of a subject protein as well as the relative mass (i.e., amount) of the subject protein present in an electrophoresis lane. The invention is also directed to methods suitable for the preparation of such dual labeled protein standards and to methods of using such dual labeled proteins to simultaneously determine the molecular weight and the relative amount of a subject protein. Further embodiments are directed to the use dual labeled protein standards to make a more accurate determination of the amount of a protein present in an electrophoresis lane. Yet further embodiments are directed to kits containing the presently described dual protein standards. Dual labeled protein standards made and used in accordance with the embodiments set forth herein may be used to simultaneously determine the molecular weight and the relative amount of a subject protein in real time.