The present invention provides breeding methods and compositions to enhance the germplasm of a plant by the use of direct nucleic acid sequence information. The methods describe the identification and accumulation of preferred nucleic acid sequences in the germplasm of a breeding population of plants.

Systems, methods, and apparatuses are disclosed for reducing the computational time of assigning a species to an infection isolate. A method for dividing a search index into one or more sub-indices based on a phylogenetic tree of reference sequences is disclosed. A method for dividing reads into test sets and aligning to sub-indices for assigning a species to an infection isolate is disclosed. A system for aligning sequence reads to a database of reference sequences using sub-indices is disclosed.

The present invention relates to methods for evaluating and/or predicting the outcome of a clinical condition, such as cancer, metastasis, AIDS, autism, Alzheimer's, and/or Parkinson's disorder. The methods can also be used to monitor and track changes in a patient's DNA and/or RNA during and following a clinical treatment regime. The methods may also be used to evaluate protein and/or metabolite levels that correlate with such clinical conditions. The methods are also of use to ascertain the probability outcome for a patient's particular prognosis.

The present invention discloses a method of real-time quantification of a target nucleic acid in a sample by constructing a reference table of copy number vs. designated parameter from reference samples which sharing the same nucleic acid sequences with the target nucleic acid. After that, obtain the designated parameter of the target sample and get the copy number by looking up and interpolating to the reference table. The object of the present invention is in particular provide methods for the quantification of the target nucleic acid which the target nucleic acid is quantified independently without comparing it to the standard controls by using a calibration curve. This invention will not only provide a new quantifying method, but will also propose a new standard operational method that eliminates the variations accompanying amplification efficiency, polymerase activity, primer concentrations, and instrument variations.

Methods for classifying organisms using whole or partial genome sequence data are provided. The methods use DNA or protein sequence data and clustering algorithms to assign organisms a protein morphotype (‘pmorph’) based on a given clustering parameter. Pmorphs can be generated quickly from whole genome sequence data, even at draft sequence quality levels, and can resolve fine differences between related organisms. In this manner, organisms can be classified and duplicate organisms within a collection can be identified.

Methods for making a synthetic gene are provided. The methods find use in optimizing a candidate gene nucleic acid sequence for expression in a selected target expression system. The method identifies stable or retained sequences in the candidate gene nucleic acid sequence, identifies disallowed sequences, develops a statistical model based on a whole genome, a partial genome, or transcriptome sequences of the target expression system, generates an optimized candidate gene nucleic acid sequence for use in the target expression system, and makes a synthetic gene comprising the optimized candidate gene nucleic acid sequence. The method allows for optimization of the candidate gene nucleic acid sequence without removing certain stable or retained sequences. Rather, the activity of these sites is positionally modulated or inactivated through upstream and downstream modifications of codons and/or sequence patterns.

Systems and methods for processing sequence data are disclosed herein. In an embodiment, the system is comprised of a computing device that is configured for receiving, storing, and processing sequence data utilizing object-oriented functions. Sequencing is disclosed herein which provides for the customization of sequencing and analysis processing for next generation sequence processing and analysis. The system may be characterized as a bioinformatics system, which uses object oriented functions to process and store sequencing data efficiently and without the need for extensive programming knowledge. Object instances configured as part of the system may be manipulated, transformed, probed, and shared in memory, yet still saved to the disk. Due to the nature of sequence representation within the system, the required disk space needed is much less than existing bioinformatics programs. In another embodiment, MATLAB is utilized as part of the configuration of the system. Due to its object-oriented approach it may be adapted to more complex development functions and processing. This provides for much needed flexibility and ease of use.

There is provided a genome analysis device configured to analyze genome data including a large quantity of fragmented genome base sequences, and transmit output data concerning the genome data in response to an output request from a client device connected via a network, the genome analysis device including; a storage unit for storing data for visualization of multiple different layers, for the genome data; a request receiving unit for receiving an output request from the client device; and an output data generating unit for selecting data for visualization of a layer corresponding to the output request from the storage when the request receiving unit receives the output request, and generating output data based on the data for visualization of the selected layer.

Disclosed is a method of designing a valid primer pair satisfying a specificity condition. The method includes searching for an identifier of a base sequence from a genetic information index based on a query language associated with a gene, searching for a candidate primer from a provided candidate primer set index to satisfy the specificity condition based on the identifier of the base sequence, filtering the candidate primer based on primer-related filtering conditions, and providing information about a primer pair satisfying the query language and the filtering conditions based on a result of the filtering.

Disclosed are methods for determining copy number variation (CNV) known or suspected to be associated with a variety of medical conditions. In some embodiments, methods are provided for determining copy number variation (CNV) of fetuses using maternal samples comprising maternal and fetal cell free DNA. In some embodiments, methods are provided for determining CNVs known or suspected to be associated with a variety of medical conditions. Some embodiments disclosed herein provide methods to improve the sensitivity and/or specificity of sequence data analysis by deriving a fragment size parameter, such as a size-weighted coverage or a fraction of fragments in a size range. In some embodiments, the fragment size parameter is adjusted to remove within-sample GC-content bias. In some embodiments, removal of within-sample GC-content bias is based on sequence data corrected for systematic variation common across unaffected training samples. Also disclosed are systems and computer program products for evaluation of CNV of sequences of interest.