Abstract: A fabrication process for producing, annealing, and conjugating nucleic acid molecules is implemented, under the direction of one or more computer programs, on two or more instruments, for carrying out the process. The process can include: (a) synthesizing, on a solid support and in a plurality of reactions, at least one of a nucleic acid and a peptide nucleic acid, and cleaving the synthesized biomolecule product from the support, providing a sample of synthesized biomolecule product from each reaction of the plurality; (b) measuring, for each sample, the volume of the sample and/or the concentration of the product; (c) subjecting the product from each reaction to chromatography under conditions suitable for achieving single-base-resolution for the product, the conditions being a function of the volume and/or concentration measured in (b); and then (d) collecting and pooling, from the chromatography of (c) for each sample, peaks that correspond to the product.

Abstract: A system and method for systematically generating potential metal-organic framework (MOFs) structures given an input library of building blocks is provided herein. One or more material properties of the potential MOFs are evaluated using computational simulations. A range of material properties (surface area, pore volume, pore size distribution, powder x-ray diffraction pattern, methane adsorption capability, and the like) can be estimated, and in doing so, illuminate unidentified structure-property relationships that may only have been recognized by taking a global view of MOF structures. In addition to identifying structure-property relationships, this systematic approach to identify the MOFs of interest is used to identify one or more MOFs that may be useful for high pressure methane storage.

Abstract: Provided are a method and a system for identifying whether the twins are dizygotic twins, the method comprising: typing at least one polymorphic loci of the twins fetuses to obtain the fetal polymorphism types, comparing the fetal polymorphism types with the corresponding polymorphism types of their parents, determining whether the twins are dizygotic twins on the basis of the comparison result.

Abstract: Provided are a method, system and computer readable medium for determining the base information in a predetermined area of a fetus genome, the method comprising following steps: constructing a sequence library for the DNA samples of the fetus genome; sequencing the sequence library to obtain the sequencing result of the fetus, the sequencing result of the fetus comprised of a plurality of sequencing data; and based on the sequencing result of the fetus, determining the base information in the predetermined area according to the hidden Markov model in conjunction with the genetic information of an individual related hereditarily to the fetus.

Abstract: A microarray substrate including a piece of fluoropolymer whose surface is modified with polydopamine, in which the polydopamine forms an array of microspots on the surface of the fluoropolymer piece, and allows immobilization of molecules or cells. A microarray including the substrate, a microfluidic system designed for dispensing reagents onto selected locations on the surface of substrates, and a method for preparing the substrate and the microarray, in which a dopamine solution is dispensed onto the fluoropolymer piece using the microfluidic system, and forms an array of polydopamine microspots serving as the reaction sites for microarray analysis.

Abstract: Disclosed are a method of determining an HPV integration site in a genome of a human tissue sample and a system thereof. The method comprises: subjecting genome DNA of the human tissue sample to a first sequencing, to obtain a sequencing result; determining DNA fragments containing both HPV sequence and human genome sequence, based on the sequencing result; determining a pair of amplification primers based on the DNA fragments containing both HPV sequence and human genome sequence, subjecting the genome DNA of the human tissue sample to PCR amplification using the pair of amplification primers, to obtain PCR product; and subjecting the PCR product to a second sequencing, to determine the integration site in a genome of the human tissue sample. The method is easy to be operated with low cost, high efficiency and excellent repeatability, which may be used to detect all HPV genotypes one time, and may rapidly and accurately determine detailed sequence information and integration site.

Abstract: A biochip for the integration of all steps in a complex process from the insertion of a sample to the generation of a result, performed without operator intervention includes microfluidic and macrofluidic features that are acted on by instrument subsystems in a series of scripted processing steps. Methods for fabricating these complex biochips of high feature density by injection molding are also provided.

Abstract: The present invention provides a method for constructing a high-throughput sequencing library, which comprises: fragmenting genomic DNA; end-repairing the DNA fragments; adding a base A to the 3? end of the end-repaired DNA fragments; connecting the DNA fragments having cohesive end A with a methylated adapter; carrying out hybrid capture on the connection products by using specific probes to obtain object fragments; treating the object fragments with bisulfite, to convert non-methylated cytosines to uracils; PCR amplifying the converted object fragments; and separating and purifying the amplification products, wherein the amplification products constitute the high-throughput sequencing library. The present invention also provides a method and an apparatus for identifying methylation information in specified genome regions of a sample.

Abstract: Disclosed are methods for synthesizing and/or assembling at least one polynucleotide product having a predefined sequence from a plurality of different oligonucleotides. In exemplary embodiments, the methods involve synthesis and/or amplification of different oligonucleotides immobilized on a solid support, release of synthesized/amplified oligonucleotides in solution to form droplets, recognition and removal of error-containing oligonucleotides, moving or combining two droplets to allow hybridization and/or ligation between two different oligonucleotides, and further chain extension reaction following hybridization and/or ligation to hierarchically generate desired length of polynucleotide products.

Abstract: Disclosed are a method of detecting a pre-determined event in a nucleic acid sample and a system thereof. The method of detecting the pre-determined event in the nucleic acid sample comprises the following steps: constructing a sequencing-library for the nucleic acid sample; sequencing the sequencing-library to obtain a sequencing result consisting of a plurality of sequencing data; determining the sequencing data from a pre-determined region; and determining an occurrence of the pre-determined event in the nucleic acid sample based on a composition of the sequencing data from the pre-determined region.

Abstract: Apparatus, systems, and methods for detecting, screening and sampling of cells are disclosed.

Abstract: Disclosed is a method for determining the chromosome aneuploidy of a single cell and a system for determining the chromosome aneuploidy of a single cell. Among them, the method for determining the chromosome aneuploidy of a single cell according to the embodiments of the present invention comprises: the whole genome of the single cell is sequenced to obtain a first sequencing result; the total number of sequencing data from the first sequencing result is counted, obtaining a value L; the number of sequencing data of a first chromosome from the first sequencing result is counted, obtaining a value M; a first parameter is determined based on the value L and the value M; and it is determined whether or not the single cell has aneuploidy in respect of the first chromosome based on the difference between the first parameter and a predetermined control parameter.

Abstract: The invention relates to a method for performing a biochemical or chemical reaction for an isolated, spatially separated amplification of sample fragments during a simultaneous immobilization and spatial arrangement of the sample fragments and reaction products, the amplification products, on one or more suitable solid phases for subsequent derivatizations.

Abstract: The present invention provides methods for identifying bio-molecules with desired properties, or which are most suitable for acquiring such properties, from complex bio-molecule libraries or sets of such libraries. More specifically, some embodiments of the present invention provide methods for building sequence-activity models comprising multiplicative terms and using the models to guide directed evolution. In some embodiments, the sequence-activity models include one or more interaction terms, each of which including an interaction coefficient representing the contribution to activity of two or more defined residues. In some embodiments, the models describe relation between protein or nucleic acid sequences and protein activities. In some embodiments, the present invention also provides methods for preparing sequence-activity models, including but not limited to stepwise addition or subtraction techniques, Bayesian regression, ensemble regression and other methods.

Abstract: The present disclosure provides assays and devices for forming, spacing, and/or detecting droplets. The droplets may be emulsions composed of two or more immiscible fluids. An emulsion can be a double emulsion, such as water-in-oil droplets that are present in a continuous aqueous phase. The double emulsion can be formed when the water-in-oil droplets are contacted with one or more streams of aqueous fluid(s). This disclosure also provides a variety of additives that can be added to the fluids.

Abstract: A method of retrieving sequence-verified deoxyribonucleic acid (DNA) from a DNA sequencing plate includes directing a laser beam to impinge on a predetermined area on the DNA sequencing plate. The DNA sequencing plate contains a plurality of sequence-verified DNA disposed thereon. The method also includes exposing the predetermined area to a radiation dosage provided by the laser beam to generate at least one of an optical pressure or an ablating force in the predetermined area. The optical pressure or ablating force result in the ejection of at least one sequence-verified DNA disposed proximate to the predetermined area.

Abstract: Provided are methods and apparatuses for performing sequencing using droplet manipulation, for example, via electrowetting-based techniques. Also provided are integrated methods and apparatuses for performing sample preparation and sequencing on the same apparatus. In addition, provided are methods of reducing reagent waste and preloaded consumable cartridges comprising reagents for sample preparation and/or sequencing.

Abstract: An analytical reference for digital histochemistry is constituted of an on-slide standard used to calibrate biomarker expression in biopsy material and tissue sections. The standard consists of one or more calibration standards, which are derived from cell lines that express biomarkers, and are arranged into a calibration array. Expression of the desired biomarkers is validated by Western blotting, flow cytometry, or other methods. The calibration array is applied to a microscopy slide in such a manner that test samples from biopsies or tissue sections, or other cellular material, can also be mounted on the same slide, adjacent to the calibration array. Data obtained from the calibration array can be used to quantify expression of biomarkers in the biopsy material, tissue sections, tissue microarrays, and cellular material, via digital histochemistry.

Abstract: This disclosure provides methods, devices and systems for using a stamp to enhance selectivity between surface layers of a substrate, and to facilitate functionalizing selected layers. An array of flat stamps may be used to concurrently stamp multiple regions of a substrate to transfer one or more substances to the topmost layer or layers of the substrate. If desired, the affected regions of the substrate may be isolated from each other through the use of a reactor plate that, when clamped to the substrate's surface, forms reaction wells in the area of stamping. The stamp area can, if desired, be configured for stamping the substrate after the reactor plate has been fitted, with the individual stamps sized and arranged in a manner that permits stamping within each reaction well.

Abstract: The present invention provides integrated sample preparation systems and stabilized enzyme mixtures. In particular, the present invention provides microfluidic cards configured for processing a sample and generating DNA libraries that are suitable for use in sequencing methods (e.g., next generation sequencing methods) or other suitable nucleic acid analysis methods. The present invention also provides stabilized enzyme mixtures containing an enzyme (e.g., an enzyme used in whole genome amplification), BSA, and a sugar. Such enzyme mixtures may be lyophilized and stored at room temperature without significant loss of enzyme activity for months.

Abstract: The invention provides systems, devices, methods, and kits for performing an integrated analysis. The integrated analysis can include sample processing, library construction, amplification, and sequencing. The integrated analysis can be performed within one or more modules that are fluidically connected to each other. The one or more modules can be controlled and/or automated by a computer. The integrated analysis can be performed on a tissue sample, a clinical sample, or an environmental sample. The integrated analysis system can have a compact format and return results within a designated period of time.

Abstract: The invention generally relates to methods for obtaining a sequence, such as a consensus sequence or a haplotype sequence. In certain embodiments, methods of the invention involve determining an amount of amplifiable nucleic acid present in a sample, partitioning the nucleic acid based upon results of the determining step such that each partitioned portion includes, on average, a subset of unique sequences, sequencing the nucleic acid to obtain sequence reads, and assembling a consensus sequence from the reads.

Abstract: A system and method for systematically generating potential metal-organic framework (MOFs) structures given an input library of building blocks is provided herein. One or more material properties of the potential MOFs are evaluated using computational simulations. A range of material properties (surface area, pore volume, pore size distribution, powder x-ray diffraction pattern, methane adsorption capability, and the like) can be estimated, and in doing so, illuminate unidentified structure-property relationships that may only have been recognized by taking a global view of MOF structures. In addition to identifying structure-property relationships, this systematic approach to identify the MOFs of interest is used to identify one or more MOFs that may be useful for high pressure methane storage.

Abstract: The invention relates to a kit, a device and a method for detecting the copy number of fetal chromosomes and tumor cell chromosomes.

Abstract: Provided are methods and apparatuses for performing sequencing using droplet manipulation, for example, via electrowetting-based techniques. Also provided are integrated methods and apparatuses for performing sample preparation and sequencing on the same apparatus. In addition, provided are methods of reducing reagent waste and preloaded consumable cartridges comprising reagents for sample preparation and/or sequencing.

Abstract: The invention provides systems and methods for generating 3D binding consensus pharmacophores. Initially, peptide screening sequence data is aligned. For one or more positions of the alignment: an observed distance matrix describing a distance between the relative binding activity of pairwise comparisons of each amino acid at the selected position is constructed, the observed distance matrix is compared to a plurality of field-based amino acid substitution matrices having the same shape as the observed distance matrix, preferred amino acid substitution matrices are identified from the plurality of amino acid substitution matrices based on the comparison, and a plurality of characteristics for the selected position are identified using the preferred amino acid substitution matrices. Characteristics for a plurality of positions of the alignment are used to generate three-dimensional peptide structures that represent predicted binding conformations.

Abstract: The invention relates to a prenatal diagnostic method for the determination of a fetal chromosomal aneuploidy in a biological sample obtained from a pregnant woman, which method comprises enrichment and quantification of selected cell-free deoxyribonucleic acid sequences showing consensus nucleosome binding regions.

Abstract: The present invention relates among others to a method of pooling samples to be analyzed for a categorical variable, wherein the analysis involves a quantitative measurement of an analyte, said method of pooling samples comprising providing a pool of n samples wherein the amount of individual samples in the pool is such that the analytes in the samples are present in a molar ratio of x0:x1:x2:x(n?1), and wherein x is equal to a positive value other than 1 representing the pooling factor.

Abstract: A novel encoding system, compositions for use therein and methods for determining the source, location and/or identity of a particular item or component of interest is provided. In particular, the present invention utilizes a collection of one or more sizes of populations of semiconductor nanocrystals having characteristic spectral emissions, to “track” the source or location of an item of interest or to identify a particular item of interest. The semiconductor nanocrystals used in the inventive compositions can be selected to emit a desired wavelength to produce a characteristic spectral emission in narrow spectral widths, and with a symmetric, nearly Gaussian line shape, by changing the composition and size of the semiconductor nanocrystal. Additionally, the intensity of the emission at a particular characteristic wavelength can also be varied, thus enabling the use of binary or higher order encoding schemes.