Abstract: An embodiment of the present invention is a methodology for prioritizing variants relevant to inherited Mendelian (“single gene”) disease syndromes according to disease phenotype, gene, and variant level information.

Abstract: The present invention relates to a more efficient and accurate method for the identification and quantification of comparatively low abundant glycopeptides, compared with general peptides, using mass spectrum obtained by using high resolution mass spectrometer. Therefore, the method of the present invention can be effectively used for the techniques for identification of biotherapeutics and diagnosis of cancer or disease by screening glycopeptide, the disease marker (Biomarker), from various samples.

Abstract: The invention provides a method for determining copy number variations (CNV) of a sequence of interest in a test sample that comprises a mixture of nucleic acids that are known or are suspected to differ in the amount of one or more sequence of interest. The method comprises a statistical approach that accounts for accrued variability stemming from process-related, interchromosomal and inter-sequencing variability. The method is applicable to determining CNV of any fetal aneuploidy, and CNVs known or suspected to be associated with a variety of medical conditions. CNV that can be determined according to the method include trisomies and monosomies of any one or more of chromosomes 1-22, X and Y, other chromosomal polysomies, and deletions and/or duplications of segments of any one or more of the chromosomes, which can be detected by sequencing only once the nucleic acids of a test sample.

Abstract: The present invention relates to a method for assessing in vitro the balance and the overall dynamics of a physiological condition, wherein a) a first biochemical marker representing a first biochemical process associated with the physiological condition is measured, b) a second biochemical marker representing a second biochemical process associated with the physiological condition is measured, c) the ratio of the results obtained in (a) and (b) is calculated, d) the square root of the sum of the squared results obtained in (a) and (b) is calculated and, e) wherein the ratio calculated in (c) is used to assess the balance of the physiological condition and wherein the square root calculated in (d) is used to assess the overall dynamics of the physiological condition.

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

Abstract: Provided are systems and methods for processing a genome sequence by adjusting seed length. Exemplary systems for processing a genome sequence may include a seed extractor configured to extract a seed from a target sequence; and an index generator configured to index the seed extracted from the seed extractor. In some embodiments, the length of the seed extracted is adjusted based on the number of seeds extracted from the target sequence that have the same nucleotide sequence.

Abstract: Disclosed are systems and methods for resequencing using color calls. A DNA sample is encoded and sequenced according to a multi-base code producing a string of read color calls for a fragment of the sample. A reference sequence is obtained. The string of read color calls is mapped to the reference sequence. A base sequence is extracted from the reference sequence. The base sequence is encoded as a string of reference color codes according to the multi-base code. The string of read color calls is aligned with the string of reference color codes and mismatches in the alignment are detected. One or more mismatches of the string of read color calls are annotated as inconsistent. The one or more inconsistent mismatches of the string of read color calls are corrected. The string of corrected read color calls is decoded to bases producing a read sequence.

Abstract: Butanol is produced by the bioconversion of substrate using a biocatalyst comprising an open, porous hydrophilic polymeric structure having microorganisms for the bioconversion irreversibly retained therein wherein the microorganisms have undergone phenotypic alterations which includes enhanced tolerance to butanol.

Abstract: Provided are systems and methods for processing a reference sequence. Exemplary systems for processing a reference sequence may include a seed extractor configured to extract a seed from a reference sequence; a determiner configured to determine whether an unidentified base is present or absent in a seed extracted by the seed extractor; and an index generator configured to add a seed to an index when unidentified bases are absent from an extracted seed.

Abstract: The invention provides a method for determining copy number variations (CNV) of a sequence of interest in a test sample that comprises a mixture of nucleic acids that are known or are suspected to differ in the amount of one or more sequence of interest. The method comprises a statistical approach that accounts for accrued variability stemming from process-related, interchromosomal and inter-sequencing variability. The method is applicable to determining CNV of any fetal aneuploidy, and CNVs known or suspected to be associated with a variety of medical conditions. CNV that can be determined according to the method include trisomies and monosomies of any one or more of chromosomes 1-22, X and Y, other chromosomal polysomies, and deletions and/or duplications of segments of any one or more of the chromosomes, which can be detected by sequencing only once the nucleic acids of a test sample.

Abstract: Provided herein are methods for correcting an error associated with phasic synchrony of sequence data generated from a population of template molecules by detecting signals generated in response to nucleotide species introduced during a sequencing reaction; generating an observed value for the signal detected from each of the nucleotide species; defining positive incorporation values and negative incorporation values from the observed values using a carry forward value and an incomplete extension value; revising the carry forward value and the incomplete extension value using a noise value derived from observed values associated with the negative incorporation values; re-defining the positive incorporation values and the negative incorporation values using the revised carry forward value and the revised incomplete extension value; and repeating the steps of revising and re-defining until convergence of the positive incorporation values and the negative incorporation values.

Abstract: The object of the present invention is to provide a method for identifying a nucleotide sequence necessary for expressing affinity for a target substance with respect to a nucleotide sequence of a nucleic acid molecule such as an aptamer having such affinity for the target substance, based on similarity between nucleotide sequences and an evaluated value of the affinity of the nucleotide sequence, and a method for predicting a secondary structure of the nucleic acid molecule including the identified nucleotide sequence. The method of present invention includes the steps of extracting a single-stranded region by excluding based capable of forming a stem structure from the nucleotide sequence of the nucleic acid molecule; and searching a motif sequence from the single-stranded region, based on an evaluated value of the affinity.

Abstract: A computer-implemented method for classifying alignments of paired nucleic acid sequence reads is disclosed. A plurality of paired nucleic acid sequence reads is received, wherein each read is comprised of a first tag and a second tag separated by an insert region. Potential alignments for the first and second tags of each read to a reference sequence is determined, wherein the potential alignments satisfies a minimum threshold mismatch constraint. Potential paired alignments of the first and second tags of each read are identified, wherein a distance between the first and second tags of each potential paired alignment is within an estimated insert size range. An alignment score is calculated for each potential paired alignment based on a distance between the first and second tags and a total number of mismatches for each tag.

Abstract: The invention provides a method for determining copy number variations (CNV) of a sequence of interest in a test sample that comprises a mixture of nucleic acids that are known or are suspected to differ in the amount of one or more sequence of interest. The method comprises a statistical approach that accounts for accrued variability stemming from process-related, interchromosomal and inter-sequencing variability. The method is applicable to determining CNV of any fetal aneuploidy, and CNVs known or suspected to be associated with a variety of medical conditions. CNV that can be determined according to the method include trisomies and monosomies of any one or more of chromosomes 1-22, X and Y, other chromosomal polysomies, and deletions and/or duplications of segments of any one or more of the chromosomes, which can be detected by sequencing only once the nucleic acids of a test sample.

Abstract: Processes are disclosed for bioconversion processes in which a ME biocatalyst is surrounded by water-insoluble liquid during the bioconversion to facilitate one or more of mass transfer of substrate to and bioproduct from the biocatalyst and the separation and recovery of bioproduct from the water-insoluble liquid. The ME biocatalyst irreversibly retains microorganizms for the bioconversion and has, in its interior, an aqueous environment.

Abstract: The present invention relates to a composition comprising two probiotic strains of bacteria capable of performing an antioxidant and/or antibacterial and competitive action against species of coliform bacteria that produce gas by fermentation of sugar, in particular lactose, isolated from infants affected by colic.

Abstract: A latent effervescent body comprising a selective agent is disclosed. A method of using the latent effervescent body in a method to selectively enrich a target microorganism is also disclosed. The method comprises providing a sample, a culture medium, and the latent effervescent body. The method further comprises contacting the sample, the culture medium, and the latent effervescent body under conditions to facilitate growth of the target microorganism. The method further comprises releasing the selective agent from the latent effervescent body. Optionally, the method includes detecting a microorganism.

Abstract: Disclosed are methods for promoting neuronal health and/or development in a subject by providing nutritional compositions comprising docosahexaenoic acid and alpha-lipoic acid. The nutritional composition may further include lactoferrin, a prebiotic, a probiotic, and mixtures thereof. Additionally disclosed are methods for accelerating the development of neuronal activity and/or strengthening electrochemical synapse signaling by providing the nutritional composition(s) disclosed herein to a target subject.

Abstract: Technologies are disclosed for a method and a device for detecting device colonization. Disclosed herein is an indwelling medical device configured to detect a biofilm. The device comprises a substrate configured to contact blood and a detecting material, disposed with the substrate, configured to detect the presence of a biofilm thereon. The detecting material is soluble in blood, removable by kidneys from the blood, and passable to urine by the kidneys for detection in the urine. A method for detecting the growth of a biofilm on an indwelling medical and a method for making an indwelling medical device are also disclosed herein.

Abstract: This invention provides several ways of managing GC bias that occurs during seequencing and analysis of genomic DNA. Maternal plasma can be used as a source of fetal DNA for analysis. DNA segments or tags obtained from the plasma can be aligned with a chromosomal region of interest and with an artificial reference chromosome assembled from regions of the genome having matching GC content. This technology can be used, for example, to detect and evaluate aneuploidy and other chromosomal abnormalities.