Abstract: The disclosed Hi-C protocol can identify genomic loci that are spatially co-located in vivo. These spatial co-locations may include, but are not limited to, intrachromosomal interactions and/or interchromosomal interactions. Hi-C techniques may be applied to many different scales of interest. For example, on a large scale, Hi-C techniques can be used to identify long-range interactions between distant genomic loci.

Abstract: The present invention generally relates to libraries, kits, methods, applications and screens used in functional genomics that focus on gene function in a cell and that may use vector systems and other aspects related to Clustered Regularly Interspaced Short Palindromic Repeats (CRISPR)-Cas systems and components thereof. The present invention also relates to rules for making potent single guide RNAs (sgRNAs) for use in CRISPR-Cas systems. Provided are genomic libraries and genome wide libraries, kits, methods of knocking out in parallel every gene in the genome, methods of selecting individual cell knock outs that survive under a selective pressure, methods of identifying the genetic basis of one or more medical symptoms exhibited by a patient, and methods for designing a genome-scale sgRNA library.

Abstract: The disclosed Hi-C protocol can identify genomic loci that are spatially co-located in vivo. These spatial co-locations may include, but are not limited to, intrachromosomal interactions and/or interchromosomal interactions. Hi-C techniques may be applied to many different scales of interest. For example, on a large scale, Hi-C techniques can be used to identify long-range interactions between distant genomic loci.

Abstract: XML transforms may be automatically generated by separating a standard process that can produce features of many transforms, and a variable process that is tailored to the features of a particular transform. The standard process can be reused with any number of variable processes, while variable processes and corresponding input files may be tailor-made for generating a particular transform. The combined processes operate on an input file to create an output transform. An input file contains any number of data patterns from a source file and the corresponding data patterns from a new file that the source file is to be converted into. The automated process can use the data from such an input file to create a legitimate transform. The input file can also include custom transforms that are pre-made for incorporation into an output transform.

Abstract: The disclosure relates to novel approaches to mapping the MHC region and provides novel methods of genotyping the HLA loci. A haplotype map of the region and methods of using the map are also disclosed.

Abstract: The invention provides nucleic acid segments of the human genome, particularly nucleic acid segments from a gene, including polymorphic sites. Allele-specific primers and probes hybridizing to regions flanking or containing these sites are also provided. The nucleic acids, primers and probes are used in applications such as phenotype correlations, forensics, paternity testing, medicine and genetic analysis. A role for the thrombospondin gene(s) in vascular disease is also disclosed. Use of single nucleotide polymorphisms in the thrombospondin gene(s) for diagnosis, prediction of clinical course and treatment response, development of therapeutics and development of cell-culture-based and animal models for research and treatment are disclosed.

Abstract: The present invention features method for identifying an intestinal polyp according to the gen expression profile obtained from intestinal tissue. The present invention also features methods for identifying a compound that modulates intestinal polyp development, as well as oligonucleotide microarrays having genes involved in intestinal polyp development immobilized thereon.

Abstract: An array of oligonucleotides on a solid substrate is disclosed, which can be used for multiple purposes. Methods and reagents are provided for performing genotyping to determine the identity or ratio of allelic forms of a gene in a sample. A single base extension primer is coupled to a sequence identity code. During the primer extension reaction a distinctive label is incorporated which identifies the allelic form present in the sample. This permits multiple simultaneous analyses to be performed easily and efficiently.

Abstract: A neural network system and method for analyzing data sets, especially microarray gene expression data. The neural network is trained to generate time-dependent outcome predictions based on input features and outcome functions for a number of subjects. The features may be highly dimensional relative to the number of subjects, and feature selection is applied to the input feature data for training the neural network. A trained neural network processes input features from a subject to generate an outcome function that reflects the probability of the occurrence of an event at a given time point for that subject.

Abstract: Disclosed herein are methods and articles of manufacture for assembly of a plurality of reads from a genomic region that include the steps of indexing a plurality of read subsequences for each of a plurality of reads, extracting from the indexed subsequences a plurality of read pairs that have a predetermined number of subsequences in common, and merging the read pairs along a continuum. Also disclosed are methods and articles of manufacture for assembly of merged reads from a genomic region that include the steps of using linking information to identify one or more ambiguities in the merged reads, identifying a repeat region and a set of unique regions, and linking pairs of unique regions using the linking information associated with the reads in the unique regions.